Patho-mechanisms of the origins of bronchopulmonary dysplasia
AbstractBronchopulmonary 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, emphasizing the continued need to understand the patho-mechanisms that play a role in the development of this disease. This brief review summarizes recent advances in our understanding of the maldevelopment of the pr...
Source: Molecular and Cellular Pediatrics - December 11, 2021 Category: Cytology Source Type: research
Translational research approaches to study pediatric polycystic kidney disease
AbstractPolycystic 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 between both entities with very variable clinical courses. Subgroups of very early onset ADPKD may for example clinically resemble ARPKD. The basis of the clinical variability in both forms of PKD is not well underst...
Source: Molecular and Cellular Pediatrics - December 9, 2021 Category: Cytology Source Type: research
Imaging of peripheral vascular malformations — current concepts and future perspectives
AbstractVascular 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 according to their dominant vessel type, anatomical extension, and flow pattern. Several imaging concepts including color-coded Duplex ultrasound/contrast-enhanced ultrasound (CDUS/CEUS), 4D computed tomography angi...
Source: Molecular and Cellular Pediatrics - December 7, 2021 Category: Cytology Source Type: research
The role of the immune system in idiopathic nephrotic syndrome
AbstractIdiopathic 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 a crucial role of the immune system in the pathogenesis of non-genetic INS. INS is traditionally considered a T-cell-mediated disorder triggered by a circulating factor, which causes the impairment of the glomerular ...
Source: Molecular and Cellular Pediatrics - November 18, 2021 Category: Cytology Source Type: research
Does allogeneic stem cell transplantation in survivors of pediatric leukemia impact regular physical activity, pulmonary function, and exercise capacity?
ConclusionsThis pilot study shows that although patients after allo-HSCT reported a good quality of life, regular physical activity and exercise capacity are reduced in survivors of stem cell transplantation, especially in adolescents who are treated with total body irradiation for conditioning. Factors hindering regular physical activity need to be identified and exercise counseling should be part of follow-up visits in these patients. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - November 4, 2021 Category: Cytology Source Type: research
Bacterial metabolites and cardiovascular risk in children with chronic kidney disease
We describe possible mechanisms involved in the increased systemic inflammation in CKD that is associated with the combined effect of SCFA deficiency and accumulation of uremic toxins. In the future, a more comprehensive and mechanistic understanding of the gut –kidney–heart interaction, mediated largely by immune dysregulation and inflammation, might allow us to target the gut microbiome more specifically in order to attenuate CKD-associated comorbidities. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - October 22, 2021 Category: Cytology Source Type: research
Proceedings of the 9th International Symposium on MDS and SAA in Childhood
(Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - October 11, 2021 Category: Cytology Source Type: research
Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis
ConclusionTo the best of our knowledge, this is the first report of early onset dysfunctional voiding, seizures, and bilateral spasticity of the lower limbs associated with a novel heterozygous dominant missense variant inDSTYK. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - October 4, 2021 Category: Cytology Source Type: research
Correction to: Novel ways to monitor immunosuppression in pediatric kidney transplant recipients —underlying concepts and emerging data
(Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - September 30, 2021 Category: Cytology Source Type: research
How FGF23 shapes multiple organs in chronic kidney disease
AbstractChronic 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 (CKD-MBD). The latter is a major contributor to the enhanced cardiovascular disease comorbidity and mortality in these patients. Elevated circulating levels of the endocrine-acting phosphaturic hormone fibroblast gro...
Source: Molecular and Cellular Pediatrics - September 18, 2021 Category: Cytology Source Type: research
ESPED survey on newly diagnosed immune thrombocytopenia in childhood: how much treatment do we give?
ConclusionsAdherence to German ITP treatment guidelines is currently limited. To improve patient safety and medical care, better medical training and dissemination of the guidelines are required in line with targeted analyses of patients with serious bleeding events to identify potential risk constellations. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - September 5, 2021 Category: Cytology Source Type: research
A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene
AbstractLeptin (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 theLEP andLEPR gene on the phenotype compared to wild-type homozygosity (wt/wt) have not been systematically investigated. We identified in our systematic review 44 animal studies (15 onLep, 29 onLepr) and 39 studies in humans reporting on 130 mono-allelic likely pathogenic variant carriers with 20 distinctLEP variants and 108 heterozygou...
Source: Molecular and Cellular Pediatrics - August 26, 2021 Category: Cytology Source Type: research
The mutual patterning between the developing nephron and its covering tissues —valid reasons to rethink the search for traces left by impaired nephrogenesis
ConclusionsThe present contribution illuminates the mutual patterning between the developing nephron and its covering tissues. It is indispensable to know about the microanatomical relations, in order to identify whether the noxae impairing nephrogenesis targets only the developing nephron or also its covering tissues as interacting and controlling instances. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - August 17, 2021 Category: Cytology Source Type: research
Novel ways to monitor immunosuppression in pediatric kidney transplant recipients —underlying concepts and emerging data
AbstractAfter 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 exposure to immunosuppressive drugs. In routine use, steering of immunosuppressants is performed primarily by monitoring of trough levels that mirror pharmacokinetics (although not, however, pharmacodynamics). Othe...
Source: Molecular and Cellular Pediatrics - July 26, 2021 Category: Cytology Source Type: research
Aggressive infantile myofibromatosis with intestinal involvement
ConclusionsPDGFRB-driven IM is clinically challenging due to its fluctuating course and multiple organ involvement in the first years of life. Early molecular genetic analysis is necessary to consider tyrosine kinase inhibitor treatment in case of aggressive visceral lesions. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - June 16, 2021 Category: Cytology Source Type: research
