scholarly journals Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles

2021 ◽  
Vol 12 ◽  
Author(s):  
Satoshi Inaba ◽  
Yuta Aizawa ◽  
Yuki Miwa ◽  
Chihaya Imai ◽  
Hidenori Ohnishi ◽  
...  
Keyword(s):  
Umbilical Cord ◽  
Ectodermal Dysplasia ◽  
Disease Status ◽  
Incontinentia Pigmenti ◽  
Inborn Errors ◽  
Umbilical Cord Tissue ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Report Analysis ◽  
Nuclear Factor Kappa Beta ◽  
Hyper Igm

Family history is one key in diagnosing inborn errors of immunity (IEI); however, disease status is difficult to determine in deceased relatives. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is one of the hyper IgM syndromes that is caused by a hypomorphic variant in the nuclear factor kappa beta essential modulator. We identified a novel IKBKG variant in a 7-month-old boy with pneumococcal rib osteomyelitis and later found that his mother has incontinentia pigmenti. Genetic analysis of preserved umbilical cords revealed the same variant in two of his deceased maternal uncles. Analysis of preserved umbilical cord tissue from deceased relatives can provide important information for diagnosing IEI in their descendants.

Osteopetrosis, Lymphedema, Anhidrotic Ectodermal Dysplasia, and Immunodeficiency in a Boy and Incontinentia Pigmenti in His Mother

PEDIATRICS ◽  
2002 ◽  
Vol 109 (6) ◽  
pp. e97-e97 ◽  
Author(s):  
S. Dupuis-Girod ◽  
N. Corradini ◽  
S. Hadj-Rabia ◽  
J.-C. Fournet ◽  
L. Faivre ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Incontinentia Pigmenti ◽  
Anhidrotic Ectodermal Dysplasia

Anhidrotic ectodermal dysplasia; a surgical problem

JAMA ◽  
1966 ◽  
Vol 195 (6) ◽  
pp. 494-495 ◽  
Author(s):  
R. E. Rossman
Keyword(s):  
Ectodermal Dysplasia ◽  
Anhidrotic Ectodermal Dysplasia

scholarly journals Correction to: Clinical feasibility of umbilical cord tissue-derived mesenchymal stem cells in the treatment of multiple sclerosis

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Neil H. Riordan ◽  
Isabela Morales ◽  
Giselle Fernández ◽  
Nicole Allen ◽  
Neal E. Fearnot ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Stem Cells ◽  
Mesenchymal Stem Cells ◽  
Umbilical Cord ◽  
Umbilical Cord Tissue

An amendment to this paper has been published and can be accessed via the original article.

scholarly journals Heterogeneity of Umbilical Cords as a Source for Mesenchymal Stem Cells

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
O. O. Maslova ◽  
N. S. Shuvalova ◽  
O. M. Sukhorada ◽  
S. M. Zhukova ◽  
O. G. Deryabina ◽  
...  
Keyword(s):  
Stem Cells ◽  
Mesenchymal Stem Cells ◽  
Stem Cell ◽  
Mesenchymal Stem Cell ◽  
Umbilical Cord ◽  
Optimal Conditions ◽  
Umbilical Cord Tissue ◽  
Umbilical Cords

The object of the paper is to show the heterogeneity of 300 cord samples processed in the current research. The differences in effectiveness of mesenchymal stem cell (MSC) isolation are shown. Moreover, the recommendations for choosing the method of MSC isolation depending on the value of stromal-vascular rate are given. The data can be useful for selecting the optimal conditions to obtain MSC and for further cryopreservation of umbilical cord tissue.

Anhidrotic ectodermal dysplasia with eruptive vellus hair cysts

2001 ◽  
Vol 40 (6) ◽  
pp. 401-402 ◽  
Author(s):  
Osman Kose ◽  
Halis Bulent Tastan ◽  
Salih Deveci ◽  
Ali Riza Gur
Keyword(s):  
Ectodermal Dysplasia ◽  
Anhidrotic Ectodermal Dysplasia

scholarly journals Generation of mesenchymal stem cell from human umbilical cord tissue using a combination enzymatic and mechanical disassociation method

2011 ◽  
Vol 35 (3) ◽  
pp. 221-226 ◽  
Author(s):  
Chih Kong Tong ◽  
Shalini Vellasamy ◽  
Boon Chong Tan ◽  
Maha Abdullah ◽  
Sharmili Vidyadaran ◽  
...  
Keyword(s):  
Stem Cell ◽  
Mesenchymal Stem Cell ◽  
Umbilical Cord ◽  
Human Umbilical Cord ◽  
Umbilical Cord Tissue

scholarly journals Clinical and imaging outcomes after intrathecal injection of umbilical cord tissue mesenchymal stem cells in cerebral palsy: a randomized double-blind sham-controlled clinical trial

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Man Amanat ◽  
Anahita Majmaa ◽  
Morteza Zarrabi ◽  
Masoumeh Nouri ◽  
Masood Ghahvechi Akbari ◽  
...  
Keyword(s):  
Stem Cells ◽  
Mesenchymal Stem Cells ◽  
Cerebral Palsy ◽  
Umbilical Cord ◽  
Intrathecal Injection ◽  
Control Group ◽  
Umbilical Cord Tissue ◽  
The Mean ◽  
And Control ◽  
Experimental Group

Abstract Background This study assessed the safety and efficacy of intrathecal injection of umbilical cord tissue mesenchymal stem cells (UCT-MSC) in individuals with cerebral palsy (CP). The diffusion tensor imaging (DTI) was performed to evaluate the alterations in white-matter integrity. Methods Participants (4–14 years old) with spastic CP were assigned in 1:1 ratio to receive either UCT-MSC or sham procedure. Single-dose (2 × 107) cells were administered in the experimental group. Small needle pricks to the lower back were performed in the sham-control arm. All individuals were sedated to prevent awareness. The primary endpoints were the mean changes in gross motor function measure (GMFM)-66 from baseline to 12 months after procedures. The mean changes in the modified Ashworth scale (MAS), pediatric evaluation of disability inventory (PEDI), and CP quality of life (CP-QoL) were also assessed. Secondary endpoints were the mean changes in fractional anisotropy (FA) and mean diffusivity (MD) of corticospinal tract (CST) and posterior thalamic radiation (PTR). Results There were 36 participants in each group. The mean GMFM-66 scores after 12 months of intervention were significantly higher in the UCT-MSC group compared to baseline (10.65; 95%CI 5.39, 15.91) and control (β 8.07; 95%CI 1.62, 14.52; Cohen’s d 0.92). The increase was also seen in total PEDI scores (vs baseline 8.53; 95%CI 4.98, 12.08; vs control: β 6.87; 95%CI 1.52, 12.21; Cohen’s d 0.70). The mean change in MAS scores after 12 months of cell injection reduced compared to baseline (−1.0; 95%CI −1.31, −0.69) and control (β −0.72; 95%CI −1.18, −0.26; Cohen’s d 0.76). Regarding CP-QoL, mean changes in domains including friends and family, participation in activities, and communication were higher than the control group with a large effect size. The DTI analysis in the experimental group showed that mean FA increased (CST 0.032; 95%CI 0.02, 0.03. PTR 0.024; 95%CI 0.020, 0.028) and MD decreased (CST −0.035 × 10-3; 95%CI −0.04 × 10-3, −0.02 × 10-3. PTR −0.045 × 10-3; 95%CI −0.05 × 10-3, −0.03 × 10-3); compared to baseline. The mean changes were significantly higher than the control group. Conclusions The UCT-MSC transplantation was safe and may improve the clinical and imaging outcomes. Trial registration The study was registered with ClinicalTrials.gov (NCT03795974).

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