Concepts for a therapeutic prolongation of nephrogenesis in preterm and low-birth-weight babies must correspond to structural-functional properties in the nephrogenic zone
AbstractNumerous 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 program display similarities to processes occurring in the kidneys of preterm and low-birth-weight babies. Although those babies are born at a time with a principally intact nephrogenic zone and active niches, a high pr...
Source: Molecular and Cellular Pediatrics - December 7, 2017 Category: Cytology Source Type: research
The BPD trio? Interaction of dysregulated PDGF, VEGF, and TGF signaling in neonatal chronic lung disease
AbstractThe 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 matrix remodeling, and apoptosis, closely intertwined with the dysregulation of growth factor signaling. This review focuses on the causes and consequences of altered signaling in central pathways like transformin...
Source: Molecular and Cellular Pediatrics - November 7, 2017 Category: Cytology Source Type: research
Estimated prevalence of potentially damaging variants in the leptin gene
ConclusionUsing exome sequencing data from ExAC, in silico prediction tools and by applying a knowledge-driven approach, we identified 27 probably damaging variants in the leptin gene of 58 heterozygous subjects. With this information, we estimate the prevalence for heterozygosity at 1:1050 corresponding to an prevalence of homozygosity of 1:4,400,000 in this large pluriethnic cohort. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - November 3, 2017 Category: Cytology Source Type: research
Transcatheter atrial septal defect closure in an infant (body weight 6.4 kg) using the GORE CARDIOFORM septal occluder (GCSO)
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 within an atrial septum with a length of 27 mm resulting in significant left-to-right shunting. During cardiac catheterization, hemodynamic significa nce of the defect as well as normal pulmonary vascular resistance was demonstrated. Balloon sizing of the central ASD showed a stretched defect diameter of 12 × 11 mm. A 20-mm GORE CARDIOFORM septal occluder (GCSO; Goremedical, W. L. Gore& Associates, Inc., Newark, ...
Source: Molecular and Cellular Pediatrics - November 3, 2017 Category: Cytology Source Type: research
Estimated prevalence of potentially damaging variants in the leptin gene
ConclusionUsing exome sequencing data from ExAC, in silico prediction tools and by applying a knowledge-driven approach, we identified 27 probably damaging variants in the leptin gene of 58 heterozygous subjects. With this information, we estimate the prevalence for heterozygosity at 1:1050 corresponding to an incidence of homozygosity of 1:4,400,000 in this large pluriethnic cohort. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - November 3, 2017 Category: Cytology Source Type: research
Transcatheter atrial septal defect closure in an infant (body weight 6.4 kg) using the GORE CARDIOFORM septal occluder (GCSO)
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 within an atrial septum with a length of 27 mm resulting in significant left-to-right shunting. During cardiac catheterization, hemodynamic significa nce of the defect as well as normal pulmonary vascular resistance was demonstrated. Balloon sizing of the central ASD showed a stretched defect diameter of 12 × 11 mm. A 20-mm GORE CARDIOFORM septal occluder (GCSO; Goremedical, W. L. Gore& Associates, Inc., Newark, ...
Source: Molecular and Cellular Pediatrics - November 3, 2017 Category: Cytology Source Type: research
Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?
ConclusionsSome of the oncogenes and tumor suppressor genes causing cancer susceptibility syndromes overlap with those involved in autism. This functional overlap between autism and cancer is novel and particularly compelling. The surprising coincidence of LFS and ASD in our patient raises the question whether this is purely coincidental or mechanistically associated. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - October 5, 2017 Category: Cytology Source Type: research
The molecular pathophysiology of chronic non-bacterial osteomyelitis (CNO) —a systematic review
AbstractChronic 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, the exact molecular mechanisms of CNO remain unknown. Recent data suggest CNO as a genetically complex disorder with dysregulated TLR4/MAPK/inflammasome signaling cascades resulting in an imbalance between pro- an...
Source: Molecular and Cellular Pediatrics - July 6, 2017 Category: Cytology Source Type: research
Pediatric precursor B acute lymphoblastic leukemia: are T helper cells the missing link in the infectious etiology theory?
AbstractPrecursor 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 cells critically depend on interactions with the bone marrow microenvironment. The bone marrow is also home to memory T helper (Th) cells that have previously expanded during an immune response in the periphery. In sec...
Source: Molecular and Cellular Pediatrics - May 16, 2017 Category: Cytology Source Type: research
Abstracts of the 52nd Workshop for Pediatric Research
(Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - May 10, 2017 Category: Cytology Source Type: research
