Osteogenesis imperfecta —pathophysiology and therapeutic options
AbstractOsteogenesis 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 most common form of OI is caused by mutations in the two collagen type I genes. Stop mutations usually lead to reduced collagen amount resulting in a mild phenotype, while missense mutations mainly provoke structural al...
Source: Molecular and Cellular Pediatrics - August 13, 2020 Category: Cytology Source Type: research
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ConclusionMost of the patients have symptoms of mild androgenisation. Male patients are underdiagnosed. Diagnostics are not standardised. Differences between the types of mutations are found in the hormone concentrations but not in phenotype. We speculate that further, as yet not clearly defined, factors are responsible for the development of the respective phenotypes. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - July 8, 2020 Category: Cytology Source Type: research
DNA methylation biomarkers of future health outcomes in children
AbstractBiomarkers 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 health outcomes. We review 25 studies in non-oncological paediatric conditions where DNA methylation biomarkers of future health outcomes are assessed. Whilst a number of positive findings have been described, the body...
Source: Molecular and Cellular Pediatrics - July 8, 2020 Category: Cytology Source Type: research
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
ConclusionsThe combination of higher amounts of beta-PA plus GOS increased significantly the proportion of fecal bifidobacteria in formula-fed infants, but did not affect the incidence of infections.Trial registrationThe study protocol was registered with Clinical Trials (Protocol Registration and Results System Trial ID:NCT01603719) on 05/15/2012 (retrospectively registered). (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - July 1, 2020 Category: Cytology Source Type: research
Pro-inflammatory cytokine ratios determine the clinical course of febrile neutropenia in children receiving chemotherapy
ConclusionsDistinct patterns of cytokine profiles seem to be able to determine infectious FN and to predict the severity of its clinical course. If these data can be verified in a multi-centre setting, this may finally lead to an individualized treatment strategy facilitating antibiotic stewardship in these patients. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - June 8, 2020 Category: Cytology Source Type: research
Modulation of CYP2E1 metabolic activity in a cohort of confirmed caffeine ingesting pregnant women with preterm offspring
ConclusionEnvironmental exposures, especially acetaminophen ingestion during human preterm pregnancy, can modulate CYP2E1 metabolic activity. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - May 31, 2020 Category: Cytology Source Type: research
Shedding light on pediatric diseases: multispectral optoacoustic tomography at the doorway to clinical applications
AbstractOptoacoustic 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 tissues. This results in acoustic pressure waves, which are used to resolve specific endo- and exogenous chromophores. Especially in the pediatric population, this non-invasive imaging approach might hold fundamen...
Source: Molecular and Cellular Pediatrics - March 3, 2020 Category: Cytology Source Type: research
Random X chromosome inactivation in patients with Klinefelter syndrome
ConclusionThis study confirmed the rarity of skewed XCI in KS patients. These results indicate that the presence of a supernumerary X chromosome during the cleavage and early blastocyst stages does not affect the developmental tempo of embryos. Our data deserve further validation. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - January 23, 2020 Category: Cytology Source Type: research
Shaping of the nephron – a complex, vulnerable, and poorly explored backdrop for noxae impairing nephrogenesis in the fetal human kidney
ConclusionsThe present investigation deals with the shaping of the nephron in the fetal human kidney. In this important developmental phase, the positioning, orientation, and folding of the nephron occur. The demonstration of previously unknown morphological details supports the search for traces left by the impairment of nephrogenesis, enables to refine the assessment in molecular pathology, and provides input for the design of therapeutic concepts prolonging nephrogenesis. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - January 21, 2020 Category: Cytology Source Type: research
Functional analysis of granulocyte and monocyte subpopulations in neonates
ConclusionsDifferentially regulated granulocyte and monocyte subpopulations indicate a unique state of neonatal immunity to fight infections and prevent dysregulation. Further studies are needed to investigate the role of reduced granulocytic ROS formation and reduced monocytic HLA-DR in active disease. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - November 27, 2019 Category: Cytology Source Type: research
Vegetarian diets in childhood and adolescence
AbstractIn 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 status, follow a more health-conscious lifestyle with higher physical activity, and refrain from smoking more often than non-vegetarians. The nutritional needs of growing children and adolescents can generally be met t...
Source: Molecular and Cellular Pediatrics - November 11, 2019 Category: Cytology Source Type: research
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.)
ConclusionBased on currently available studies, routine vitamin D supplementation is not be recommended for children aged> 2 years, even when they have serum concentrations below reference values. Routine vitamin D supplementation is not recommended in children who do not have risk factors and chronic diseases which are associated with calcium or vitamin D resorption disorders. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - May 5, 2019 Category: Cytology Source Type: research
Complementary foods in baby food pouches: position statement from the Nutrition Commission of the German Society for Pediatrics and Adolescent Medicine (DGKJ, e.V.)
AbstractPureed 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 should be given the opportunity to get to know a variety of foods and food textures including pieces of foods, supported by responsive feeding between the child and their parents or caregivers. Complementary foods ma...
Source: Molecular and Cellular Pediatrics - March 5, 2019 Category: Cytology Source Type: research
KUNO-Kids birth cohort study: rationale, design, and cohort description
ConclusionsThe data and diverse biomaterial collected in the KUNO-Kids birth cohort study will provide extensive opportunities for investigating child health and its determinants in a holistic approach. The combination of a broad range of research questions in one study will allow for a cost-effective use of biomaterial and omics results and for a comprehensive analysis of biological and social determinants of health and disease. Aiming for low attrition and ensuring participants ’ long-term commitment will be crucial to fully exploit the potential of the study. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - January 9, 2019 Category: Cytology Source Type: research
Gene correction of HBB mutations in CD34 + hematopoietic stem cells using Cas9 mRNA and ssODN donors
ConclusionOur approach provides guidance on non-viral gene correction in CD34+ HSCs usingCas9 mRNA and chemically modified ssODN. However, further optimization is needed to increase the homology directed repair (HDR) to attain a real clinical benefit for β-thalassemia. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - November 14, 2018 Category: Cytology Source Type: research
