Profile of down syndrome–associated malignancies: Epidemiology, clinical features and therapeutic aspects

Shimada, Akira

doi:10.1016/j.phoj.2021.01.001

Cited by 8 publications

(9 citation statements)

References 120 publications

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“…Este tipo de leucemia neonatal corresponde a menos del 1 % del total de las leucemias. 9 S e h a d o c u m e n t a d o q u e l a p r e s e n c i a de una mutación en el gen GATA1 en el cromosoma X es un factor predisponente y hasta el 11 % de los recién nacidos con SD que presentan esta mutación desarrollarán leucemia megacariocítica. [10][11][12][13][14] Debido al rápido deterioro de la primera paciente, no fue posible la realización del estudio del gen GATA1.…”

Section: Discussionunclassified

Trastornos mieloproliferativos y leucemia en síndrome de Down. Presentación de dos casos clínicos en el período neonatal

Castro

Aristizábal

et al. 2022

Arch Argent Pediat

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Reporte de casos RESUMENEl síndrome de Down predispone a trastornos mieloproliferativos. Se estima que del 5 % al 30 % de los neonatos con esta condición desarrollarán mielopoyesis anormal transitoria. El tratamiento no está estandarizado; la exanguinotransfusión y la citarabina podrían ser efectivos. Se describen dos casos de pacientes con síndrome de Down, quienes durante el período neonatal presentaron leucemia mieloide aguda y mielopoyesis anormal transitoria, los tratamientos utilizados y sus desenlaces. Se considera que la sospecha y el diagnóstico temprano de esta entidad son factores determinantes en el pronóstico. Palabras clave: síndrome mieloproliferativo transitorio, síndrome de Down, leucemia, síndrome de lisis tumoral.

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Section: Discussionunclassified

Trastornos mieloproliferativos y leucemia en síndrome de Down. Presentación de dos casos clínicos en el período neonatal

Castro

Aristizábal

et al. 2022

Arch Argent Pediat

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“…However, people with Down syndrome have 47 chromosomes and are often found with health complications, and have poor mental and physical development left behind. 1 Down syndrome affects more than 300 genes, impacting numerous systems, is related to particular facial features, and is related to particular cognitive profiles. 2,3 Based on data from WHO, it was estimated that there were 8 million people with Down syndrome.…”

Section: Introductionmentioning

confidence: 99%

Caregiver Experience in Potty Training Children with Down Syndrome

Purnamawati

Shaluhiyah

Suryoputro

2023

JIKM

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Potty training assistance for children with Down syndrome is challenging because it takes longer to adapt and has physical and cognitive limitations. In addition, educating children with Down syndrome differs from one child to another. The study aimed to explore the role of parents or caregivers in teaching the potty training process to children with Down syndrome at States Special Needs School Semarang. The research was conducted using a qualitative phenomenological approach to determine parental participation in potty training in children with Down syndrome. Data collection was carried out by in-depth interviews and observations supplemented by field notes which were then transcribed verbatim. The search for informants used a purposive sampling method selected based on specific considerations with a total of 10 primary informants and those who cared for children with Down syndrome aged 7-14 years and were still in elementary school and two triangulated informants from teachers. Data analysis was carried out thematically. The results of the study found that the knowledge of most caregivers about potty training was limited to taking their children to the toilet, most of the children with Down syndrome were unable to urinate independently, the caregiver's difficulties when teaching potty training were problems communicating with the child, the caregiver's task in the potty training process was as follows: by finding solutions to make it easier for children to communicate and understand children's conditions. This qualitative research concludes that there is a theme regarding the role of caregivers with Down syndrome in potty training: caregiver knowledge about potty training, the behavior of children with Down syndrome during potty training, caregiver difficulties in potty training, and the caregiver's role or task in potty training.

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“…Due to the chromosomal aberration which results in DS, it is thought to be a predisposing factor for certain health conditions such as anxiety disorders, autoimmune diseases, epilepsy, early-onset Alzheimer disease, hypothyroidism, obstructive sleep apnea, and recurrent infections [ 4 , 12 ]. Surprisingly, epidemiological data show that while persons with DS are more (10–30 times) likely to be diagnosed with hematological malignancies such as acute myeloid, acute lymphoblastic and acute megakaryoblastic leukemias, solid tumors are less likely to occur within the DS populace [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

Inverse Comorbidity between Down Syndrome and Solid Tumors: Insights from In Silico Analyses of Down Syndrome Critical Region Genes

Fosu

Quarshie

Sarpong

et al. 2023

Genes

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An inverse comorbidity has been observed between Down syndrome (DS) and solid tumors such as breast and lung cancers, and it is posited that the overexpression of genes within the Down Syndrome Critical Region (DSCR) of human chromosome 21 may account for this phenomenon. By analyzing publicly available DS mouse model transcriptomics data, we aimed to identify DSCR genes that may protect against human breast and lung cancers. Gene expression analyses with GEPIA2 and UALCAN showed that DSCR genes ETS2 and RCAN1 are significantly downregulated in breast and lung cancers, and their expression levels are higher in triple-negative compared to luminal and HER2-positive breast cancers. KM Plotter showed that low levels of ETS2 and RCAN1 are associated with poor survival outcomes in breast and lung cancers. Correlation analyses using OncoDB revealed that both genes are positively correlated in breast and lung cancers, suggesting that they are co-expressed and perhaps have complementary functions. Functional enrichment analyses using LinkedOmics also demonstrated that ETS2 and RCAN1 expression correlates with T-cell receptor signaling, regulation of immunological synapses, TGF-β signaling, EGFR signaling, IFN-γ signaling, TNF signaling, angiogenesis, and the p53 pathway. Altogether, ETS2 and RCAN1 may be essential for the development of breast and lung cancers. Experimental validation of their biological functions may further unravel their roles in DS and breast and lung cancers.

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Profile of down syndrome–associated malignancies: Epidemiology, clinical features and therapeutic aspects

Cited by 8 publications

References 120 publications

Trastornos mieloproliferativos y leucemia en síndrome de Down. Presentación de dos casos clínicos en el período neonatal

Trastornos mieloproliferativos y leucemia en síndrome de Down. Presentación de dos casos clínicos en el período neonatal

Caregiver Experience in Potty Training Children with Down Syndrome

Inverse Comorbidity between Down Syndrome and Solid Tumors: Insights from In Silico Analyses of Down Syndrome Critical Region Genes

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