An integration-free iPSC line SDQLCHi065-A from a patient with down syndrome, possessing a 47, XY,+21, inv(9)(p12q21),16qh + karyotype
Stem Cell Res. 2024 Feb 17;76:103351. doi: 10.1016/j.scr.2024.103351. Online ahead of print.ABSTRACTDown syndrome, a chromosomal aneuploidy genetic disorder, is primarily caused by trisomy 21 in all cells of a patient's body. In fewer cases, it can be attributed to a trisomy 21 chimera or trisomy 21 in specific cells within the body. We established an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of an 8-day-old boy with Down syndrome possessing a 47, XY,+21, inv(9)(p12q21),16qh + karyotype. The iPSCs exhibited consistent karyotype, expressed markers indicative of pluripotenc...
Source: Cell Research - February 20, 2024 Category: Cytology Authors: Xue Zhang Hongmei Xin Yi Liu Zhongtao Gai Zilong Li Source Type: research
Safety and Efficacy of Biologic Medications and Janus Kinase Inhibitors in Patients with Down Syndrome: A Retrospective Cohort Study
(Source: Clinical Drug Investigation)
Source: Clinical Drug Investigation - February 19, 2024 Category: Drugs & Pharmacology Source Type: research
Anti-leukemic effect of azacitidine, a DNA methyltransferase inhibitor, on cell lines of myeloid leukemia associated with Down syndrome
Myeloid leukemia associated with Down syndrome (ML-DS) mostly develops from transient abnormal myelopoiesis (TAM), a preleukemic condition, and is associated with somatic mutations in the GATA1 gene [1 –9]. We have previously reported that genetic mutations associated with epigenetic regulators contribute to the progression of TAM to ML-DS [10,11]. Although patients with ML-DS are sensitive to cytarabine and demonstrate high event-free survival, treatment-related morbidity and mortality are high , and optimizing treatment intensity is challenging [12–16]. (Source: Experimental Hematology)
Source: Experimental Hematology - February 9, 2024 Category: Hematology Authors: Tatsuhiko Tanaka, Ko Kudo, Rika Kanezaki, Kentaro Yuzawa, Tsutomu Toki, Ryo Okuse, Akie Kobayashi, Tomohiko Sato, Takuya Kamio, Kiminori Terui, Etsuro Ito Tags: Article Source Type: research
Autoimmune, Autoinflammatory Disease and Cutaneous Malignancy Associations with Hidradenitis Suppurativa: A Cross-Sectional Study
ConclusionThis is the first study to identify correlations between HS with melanoma and basal cell carcinoma (BCC) among Black patients as well as MS and lupus in all patients with HS. (Source: American Journal of Clinical Dermatology)
Source: American Journal of Clinical Dermatology - February 9, 2024 Category: Dermatology Source Type: research
Antileukemic effect of azacitidine, a DNA methyltransferase inhibitor, on cell lines of myeloid leukemia associated with Down syndrome
Myeloid leukemia associated with Down syndrome (ML-DS) mostly develops from transient abnormal myelopoiesis (TAM), a preleukemic condition, and is associated with somatic mutations in the GATA1 gene [1 –9]. We have previously reported that genetic mutations associated with epigenetic regulators contribute to the progression of TAM to ML-DS [10,11]. Although patients with ML-DS are sensitive to cytarabine and demonstrate high event-free survival, treatment-related morbidity and mortality are high , and optimizing treatment intensity is challenging [12–16]. (Source: Experimental Hematology)
Source: Experimental Hematology - February 9, 2024 Category: Hematology Authors: Tatsuhiko Tanaka, Ko Kudo, Rika Kanezaki, Kentaro Yuzawa, Tsutomu Toki, Ryo Okuse, Akie Kobayashi, Tomohiko Sato, Takuya Kamio, Kiminori Terui, Etsuro Ito Tags: Article Source Type: research
Differentiation of the body build and posture in the population of people with intellectual disabilities and Down Syndrome: a systematic review
The aim of the study was to identify the variables of the internal compensatory mechanisms that differentiate the body build and posture of people with Down syndrome (DS) from the intellectual disability (ID) ... (Source: BMC Public Health)
Source: BMC Public Health - February 8, 2024 Category: Consumer Health News Authors: Eliza Gawe ł, Diana Celebańska and Anna Zwierzchowska Tags: Research Source Type: research
Altered peripheral blood leukocyte subpopulations, function, and gene expression in children with Down syndrome: implications for respiratory tract infection
CONCLUSIONS: Increased susceptibility to severe and chronic infection in children with DS may result from inappropriate numbers and subtypes of immune cells that are phenotypically and functionally altered due to trisomy 21 associated interferonopathy.PMID:38325643 | DOI:10.1016/j.ejmg.2024.104922 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 7, 2024 Category: Genetics & Stem Cells Authors: Kelley L Colvin Kristine Wolter-Warmerdam Francis Hickey Michael E Yeager Source Type: research
DYRK1A gene linked to heart defects in Down syndrome
Nature Reviews Cardiology, Published online: 07 February 2024; doi:10.1038/s41569-024-00995-2A study shows that congenital heart defects in Down syndrome are in part caused by increased dosage of the DYRK1A gene, which lies on chromosome 21, leading to reduced proliferation and mitochondrial dysfunction in cardiomyocytes. (Source: Nature Reviews Cardiology)
Source: Nature Reviews Cardiology - February 7, 2024 Category: Cardiology Authors: Irene Fern ández-Ruiz Source Type: research
Investigating brain alterations in the Dp1Tyb mouse model of Down syndrome
In this study, we compared Dp1Tyb mice, a DS model, against their wild-type (WT) littermates of both sexes to investigate the impact of DS-related genetic abnormalities on the brain phenotype. We performed in vivo whole brain magnetic resonance imaging (MRI) and hippocampal 1H magnetic resonance spectroscopy (MRS) on the animals at 3 months of age. Subsequently, ex vivo MRI scans and histological analyses were conducted post-mortem. Our findings unveiled the following neuroanatomical and biochemical alterations in the Dp1Tyb brains: a smaller surface area and a rounder shape compared to WT brains, with DS males also presen...
Source: Neurobiology of Disease - February 6, 2024 Category: Neurology Authors: Maria Elisa Serrano Eugene Kim Bernard Siow Da Ma Loreto Rojo Camilla Simmons Darryl Hayward Dorota Gibbins Nisha Singh Andre Strydom Elizabeth M C Fisher Victor L J Tybulewicz Diana Cash Source Type: research
Creatinine levels in French children with Down syndrome up to ten years old
Conclusion: The present results allow to propose an original chart of creatinine levels according to age in French children with DS, which should help optimize their medical management and improve the early detection of renal diseases.What is Known:• Creatinine is a product of muscle breakdown and depends on muscle mass and children with Down syndrome have muscle and growth characteristics that differ from those of the general paediatric population.• Serum creatinine values in Japanese children with DS are higher than those of children from the general Japanese population.What is New:• Creatinine values in French ch...
Source: European Journal of Pediatrics - February 6, 2024 Category: Pediatrics Source Type: research
Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome
World J Cardiol. 2024 Jan 26;16(1):1-4. doi: 10.4330/wjc.v16.i1.1.ABSTRACTDown syndrome is the most common chromosomal abnormality encountered in clinical practice with 50% of them having associated congenital heart disease (CHD). Shunt lesions account for around 75% of all CHDs in Down syndrome. Down syndrome patients, especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension (PH) compared with shunt lesions in general population. This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality. However, des...
Source: World Journal of Cardiology - February 5, 2024 Category: Cardiology Authors: Akash Batta Juniali Hatwal Source Type: research
Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome
World J Cardiol. 2024 Jan 26;16(1):1-4. doi: 10.4330/wjc.v16.i1.1.ABSTRACTDown syndrome is the most common chromosomal abnormality encountered in clinical practice with 50% of them having associated congenital heart disease (CHD). Shunt lesions account for around 75% of all CHDs in Down syndrome. Down syndrome patients, especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension (PH) compared with shunt lesions in general population. This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality. However, des...
Source: World Journal of Cardiology - February 5, 2024 Category: Cardiology Authors: Akash Batta Juniali Hatwal Source Type: research
Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome
World J Cardiol. 2024 Jan 26;16(1):1-4. doi: 10.4330/wjc.v16.i1.1.ABSTRACTDown syndrome is the most common chromosomal abnormality encountered in clinical practice with 50% of them having associated congenital heart disease (CHD). Shunt lesions account for around 75% of all CHDs in Down syndrome. Down syndrome patients, especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension (PH) compared with shunt lesions in general population. This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality. However, des...
Source: World Journal of Cardiology - February 5, 2024 Category: Cardiology Authors: Akash Batta Juniali Hatwal Source Type: research
Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome
World J Cardiol. 2024 Jan 26;16(1):1-4. doi: 10.4330/wjc.v16.i1.1.ABSTRACTDown syndrome is the most common chromosomal abnormality encountered in clinical practice with 50% of them having associated congenital heart disease (CHD). Shunt lesions account for around 75% of all CHDs in Down syndrome. Down syndrome patients, especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension (PH) compared with shunt lesions in general population. This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality. However, des...
Source: World Journal of Cardiology - February 5, 2024 Category: Cardiology Authors: Akash Batta Juniali Hatwal Source Type: research
Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome
World J Cardiol. 2024 Jan 26;16(1):1-4. doi: 10.4330/wjc.v16.i1.1.ABSTRACTDown syndrome is the most common chromosomal abnormality encountered in clinical practice with 50% of them having associated congenital heart disease (CHD). Shunt lesions account for around 75% of all CHDs in Down syndrome. Down syndrome patients, especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension (PH) compared with shunt lesions in general population. This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality. However, des...
Source: World Journal of Cardiology - February 5, 2024 Category: Cardiology Authors: Akash Batta Juniali Hatwal Source Type: research
