Congenital Disorders

2022 ◽  
pp. 393-413
Keyword(s):  
Stem Cell ◽  
Rare Case ◽  
Early Infancy ◽  
Congenital Disorders ◽  
Inheritance Pattern ◽  
Rieger Syndrome ◽  
Familial Form ◽  
Adjacent Structures ◽  
Before And After ◽  
Chamber Angle

This chapter is devoted to specific diseases presenting usually in early infancy or childhood as a result of disruption in the normal development of the cornea and its associated structures. These disorders may develop due to one or a combination of various genetic, infectious, inflammatory, toxic, metabolic, traumatic, or mechanical processes and may occur at any time during tissue induction, differentiation, and maturation. Adjacent structures (anterior chamber angle, iris, and lens) can be impacted too. Congenital limbal stem cell deficiency is usually associated with aniridia and ectodermal dysplasia. Aniridia can occur in a sporadic or familial form. The familial inheritance pattern of aniridia is predominantly autosomal dominant. The aniridia phenotype varies depending on the mutation present. Interesting ocular congenital disorders associated with Neurofibromatosis, Axenfeld-Rieger syndrome, Icthyosis are shown in this chapter. It presents a rare case of porphyria-associated sclerocorneal melting with before and after treatment photos.

scholarly journals Identification of novel regulators of hematopoietic stem cell development through refinement of stem cell localization and expression profiling

Blood ◽  
2009 ◽  
Vol 114 (21) ◽  
pp. 4645-4653 ◽  
Author(s):  
Maria I. Mascarenhas ◽  
Aimée Parker ◽  
Elaine Dzierzak ◽  
Katrin Ottersbach
Keyword(s):  
Gene Expression ◽  
Stem Cell ◽  
Expression Profiling ◽  
Gene Expression Analysis ◽  
Kinase Inhibitor ◽  
Cyclin Dependent Kinase ◽  
Hematopoietic Stem ◽  
Cyclin Dependent Kinase Inhibitor ◽  
Cell Localization ◽  
Before And After

Abstract The first adult-repopulating hematopoietic stem cells (HSCs) are detected starting at day 10.5 of gestation in the aorta-gonads-mesonephros (AGM) region of the mouse embryo. Despite the importance of the AGM in initiating HSC production, very little is currently known about the regulators that control HSC emergence in this region. We have therefore further defined the location of HSCs in the AGM and incorporated this information into a spatial and temporal comparative gene expression analysis of the AGM. The comparisons included gene expression profiling (1) in the newly identified HSC-containing region compared with the region devoid of HSCs, (2) before and after HSC emergence in the AGM microenvironment, and (3) on populations enriched for HSCs and their putative precursors. Two genes found to be up-regulated at the time and place where HSCs are first detected, the cyclin-dependent kinase inhibitor p57Kip2/Cdkn1c and the insulin-like growth factor 2, were chosen for further analysis. We demonstrate here that they play a novel role in AGM hematopoiesis. Interestingly, many genes involved in the development of the tissues surrounding the dorsal aorta are also up-regulated during HSC emergence, suggesting that the regulation of HSC generation occurs in coordination with the development of other organs.

scholarly journals Neonatal pertusis with classical whoop: an unusual scenario

2018 ◽  
Vol 5 (6) ◽  
pp. 2344
Author(s):  
Payas Joshi ◽  
Sumit Bhatia ◽  
Jay Kishore ◽  
Chetnanand Jhaz
Keyword(s):  
Early Diagnosis ◽  
Rare Case ◽  
Clinical Presentation ◽  
Age Groups ◽  
Early Infancy ◽  
Atypical Presentation ◽  
Older Children ◽  
The Times

Pertusis affects all the age groups but is most severe in neonates and early infancy and may even cause mortality. Clinical presentation of neonatal pertusis is varied and thus knowing the spectrum of clinical presentation is vital for early diagnosis. Unlike older children, most of the times neonatal pertusis has an atypical presentation and classical presentation is very rare. Here we present such a rare case of neonatal pertusis who presented with classical symptoms of pertusis.

scholarly journals Concentrations of Insulin-like Growth Factors and Insulin-like Growth Factor-Binding Proteins and Respective Gene Expressions in Children before and after Hematopoietic Stem Cell Transplantation

Nutrients ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 4333
Author(s):  
Wojciech Strojny ◽  
Wojciech Czogała ◽  
Przemysław Tomasik ◽  
Mirosław Bik-Multanowski ◽  
Małgorzata Wójcik ◽  
...  
Keyword(s):  
Stem Cell ◽  
Growth Factors ◽  
Growth Factor ◽  
Hematopoietic Stem Cell Transplantation ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Healthy Controls ◽  
Hematopoietic Stem ◽  
Before And After ◽  
Insulin Like Growth Factors

Insulin-like growth factors (IGF-1 and IGF-2) and insulin-like growth factor-binding proteins (IGFBP-1 to -7) are involved in the regulation of cell proliferation and differentiation and may be associated with various metabolic parameters. The aim of our study was to compare levels of IGFs and IGFBPs and the expressions of their genes in children before and after hematopoietic stem cell transplantation (HSCT) to assess their potential as markers of late metabolic complications of HSCT. We also conducted additional comparisons with healthy controls and of correlations of IGF and IGFBP levels with anthropometric and biochemical parameters. We analyzed 19 children treated with HSCT and 21 healthy controls. We found no significant differences in the levels of IGFs and IGFBPs and expressions of their genes before and after HSCT, while IGF and IGFBP levels were significantly lower in children treated with HSCT compared with controls. We conclude that our results did not reveal significant differences between the levels of IGFs and IGFBPs before and after HSCT, which would make them obvious candidates for markers of late complications of the procedure in children. However, due to the very low number of patients this conclusion must be taken with caution and may be altered by further research.

News and Views

2016 ◽  
Vol 53 (1) ◽  
pp. 135
Keyword(s):  
Stem Cells ◽  
Stem Cell ◽  
Cell Therapy ◽  
Heart Attack ◽  
Cardiac Performance ◽  
Heart Repair ◽  
Before And After ◽  
New Research ◽  
Large Animals ◽  
The University

New research reveals combined cell therapy enhances cardiac performance following heart attack. A study by Dr. Joshua Hare, Director of Interdisciplinary Stem Cell Institute (ISCI) at the University of Miami Miller School of Medicine finds that combination stem cell therapy, using ckit+ cardiac stem cells (CSCs) and mesenchymal stem cells (MSCs) can significantly enhance cardiac performance in chronic ischemic cardiomyopathy following a heart attack. The study centered on large animals three months after experiencing a heart attack. The animals were divided into three cohorts. The first group received transendocardial injections of MSCs, while the second group received a combination of MSCs and cardiacderived CSCs. The third group acted as a controlled placebo group. Cardiac MRIs were performed to determine cardiac function before and after therapy. Both groups of cell-treated animals exhibited a significant reduction in scar size. However, the group that received the combination of MSCs and cardiacderived CSCs also demonstrated increased viable tissue, improved contractile performance and increased formation of new cardiomyocytes, which contribute to heart repair. The group that received the combination cell therapy continued to show substantial cardiac enhancement for at least three months post treatment. While further testing is needed, these findings establish the safety and efficacy of combination cell-based treatments, taking the next steps in developing stem cell-based therapies for the prevention and treatment of cardiovascular disease in humans.

The use of ibrutinib before and after allogeneic stem cell transplantation

2019 ◽  
Vol 7 (4) ◽  
pp. 171-180
Author(s):  
Massimo Martino ◽  
Anna Ferreri ◽  
Virginia Naso ◽  
Tiziana Moscato ◽  
Barbara Loteta ◽  
...  
Keyword(s):  
Stem Cell ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Allogeneic Stem Cell Transplantation ◽  
Before And After
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