Genetic diagnosis depends on having available tissue to test. This can be important for many reasons, such as related to familial diagnosis in the case of another pregnancy. When blood or DNA samples from affected family members are not available, accurate prenatal diagnosis may be much more difficult and hence additional effort may be needed to obtain a genetic diagnosis in such families. We report two families with suspected monogenic disorders where attempts were made to establish the genetic etiology in deceased offspring using dried umbilical cord remnants which had been preserved by the family.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.61850 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Lyophilized powder of calf bone marrow hydrolysate liposomes improved renal anemia: In vitro and in vivo evaluation.
PLoS One
December 2024
Department of Research and Development, Jinan Perfect Biological Technology Co., LTD, Jinan, Shandong, China.
This study aimed to find whether oral administration of calf bone marrow hydrolysate liposomes (CBMHL) can improve renal anemia. Calf bone marrow was defatted, papain hydrolyzed, liposomalized and lyophilized. Its hematopoietic ability was proved by the colony formation experiment of umbilical cord blood hematopoietic stem cells in vitro.
View Article and Find Full Text PDFEnhanced Vascularity in Gelatin Scaffolds via Copper-Doped Magnesium-Calcium Silicates Incorporation: and Insights.
Ceram Int
October 2024
Marquette University School of Dentistry, Milwaukee, WI 53233, USA.
Addressing a critical challenge in current tissue-engineering practices, this study aims to enhance vascularization in 3D porous scaffolds by incorporating bioceramics laden with pro-angiogenic ions. Specifically, freeze-dried gelatin-based scaffolds were infused with sol-gel-derived powders of Cu-doped akermanite (CaMgSi2O) and bredigite (CaMgSiO) at various concentrations (10, 20, and 30 wt%). The scaffolds were initially characterized for their structural integrity, biodegradability, swelling behavior, impact on physiological pH, and cytocompatibility with human umbilical vein endothelial cells (HUVECs).
View Article and Find Full Text PDFMetabolomic signatures associated with fetal growth restriction and small for gestational age: a systematic review.
Nat Commun
November 2024
Oxford Maternal & Perinatal Health Institute, Green Templeton College, University of Oxford, Oxford, UK.
The pathways involved in the pathophysiology of fetal growth restriction (FGR) and small for gestational age (SGA) are incompletely understood. We conduct a systematic review to identify metabolomic signatures in maternal and newborn tissues and body fluids samples associated with FGR/SGA. Here, we report that 825 non-duplicated metabolites were significantly altered across the 48 included studies using 10 different human biological samples, of which only 56 (17 amino acids, 12 acylcarnitines, 11 glycerophosphocholines, six fatty acids, two hydroxy acids, and eight other metabolites) were significantly and consistently up- or down-regulated in more than one study.
View Article and Find Full Text PDFiPSC-derived megakaryocytes and platelets accelerate wound healing and angiogenesis.
Stem Cell Res Ther
October 2024
Department of Plastic, Reconstructive, and Aesthetic Surgery, Chiba University Graduate School of Medicine, Chiba, Japan.
Background: Platelet-rich plasma (PRP), which is prepared by concentrating platelets in autologous blood, shows efficacy in chronic skin wounds via multiple growth factors. However, it exhibits heterogeneity across patients, leading to unstable therapeutic efficacy. Human induced pluripotent stem cell (iPSC)-derived megakaryocytes and platelets (iMPs) are capable of providing a stable supply, holding promise as materials for novel platelet concentrate-based therapies.
View Article and Find Full Text PDFPreterm birth as a determinant of neurodevelopment and cognition in children (PRENCOG): protocol for an exposure-based cohort study in the UK.
BMJ Open
September 2024
Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
Article Synopsis
- - The study focuses on understanding the connection between preterm birth (PTB) and encephalopathy of prematurity (EoP), particularly how neuroendocrine stress and immune responses might influence brain development issues in preterm infants.
- - Researchers at the University of Edinburgh will recruit 300 mother-infant pairs, including both preterm and term births, over a five-year period to gather a variety of biological and demographic data, including MRI scans to assess brain development.
- - Ethical approval for the study has been granted, ensuring that the research will be conducted responsibly and that findings will be shared for broader educational and clinical use.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!