scholarly journals Down's syndrome and acute lymphoblastic leukaemia: clinical features and response to treatment

2001 ◽  
Vol 85 (4) ◽  
pp. 321-325 ◽  
Author(s):  
J M Chessells
Keyword(s):  
Acute Lymphoblastic Leukaemia ◽  
Clinical Features ◽  
Lymphoblastic Leukaemia ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Response To Treatment

scholarly journals DUX Hunting—Clinical Features and Diagnostic Challenges Associated with DUX4-Rearranged Leukaemia

Cancers ◽  
2020 ◽  
Vol 12 (10) ◽  
pp. 2815
Author(s):  
Jacqueline A. Rehn ◽  
Matthew J. O'Connor ◽  
Deborah L. White ◽  
David T. Yeung
Keyword(s):  
Next Generation Sequencing ◽  
Acute Lymphoblastic Leukaemia ◽  
B Cell ◽  
Clinical Features ◽  
Lymphoblastic Leukaemia ◽  
Diagnostic Techniques ◽  
Diagnostic Methods ◽  
Intensive Chemotherapy ◽  
Chromosome 4 ◽  
Generation Sequencing

DUX4-rearrangement (DUX4r) is a recently discovered recurrent genomic lesion reported in 4–7% of childhood B cell acute lymphoblastic leukaemia (B-ALL) cases. This subtype has favourable outcomes, especially in children and adolescents treated with intensive chemotherapy. The fusion most commonly links the hypervariable IGH gene to DUX4 a gene located within the D4Z4 macrosatellite repeat on chromosome 4, with a homologous polymorphic repeat on chromosome 10. DUX4r is cryptic to most standard diagnostic techniques, and difficult to identify even with next generation sequencing assays. This review summarises the clinical features and molecular genetics of DUX4r B-ALL and proposes prospective new diagnostic methods.

A five year follow-up study of dementia in persons with Down's syndrome: early symptoms and patterns of deterioration

2000 ◽  
Vol 17 (1) ◽  
pp. 5-11 ◽  
Author(s):  
Mary P Cosgrave ◽  
Janette Tyrrell ◽  
Mary McCarron ◽  
Michael Gill ◽  
Brian A Lawlor
Keyword(s):  
Clinical Features ◽  
Rating Scales ◽  
Age At Onset ◽  
Down's Syndrome ◽  
Memory Loss ◽  
Down’S Syndrome ◽  
Personal Hygiene ◽  
Follow Up Study ◽  
Diagnosis Of Dementia

AbstractObjectives: To investigate the development of dementia over a five year follow up period in a population of females with Down's syndrome; to examine age at onset and duration of dementia in the population; to document the clinical features of dementia and to highlight scores on functional and cognitive rating scales at diagnosis of dementia and at the onset of complete dependency.Method: A five year follow-up study of 80 female subjects on prevalence of dementia, early clinical features of dementia and patterns of scoring on rating scales at diagnosis and end-stage dementia was completed. Results: Over the five year study period the number of subjects diagnosed with dementia rose from seven (8.75%) to 35 (43.75%). Age related prevalence figures showed that dementia was more common with increasing age. The earliest recognisable symptoms of dementia were memory loss, spatial disorientation and loss of independence especially in the area of personal hygiene. These findings were confirmed by the rating scales used in the study.Conclusions: The earliest recognisable clinical features of dementia include memory loss and increased dependency. The results of this study should facilitate earlier diagnosis of dementia in DS.

scholarly journals The presence of CD56/CD16 in T-cell acute lymphoblastic leukaemia correlates with the expression of cytotoxic molecules and is associated with worse response to treatment

2009 ◽  
Vol 144 (2) ◽  
pp. 223-229 ◽  
Author(s):  
Leandro F. F. Dalmazzo ◽  
Rafael H. Jácomo ◽  
André F. Marinato ◽  
Lorena L. Figueiredo-Pontes ◽  
Renato L. G. Cunha ◽  
...  
Keyword(s):  
T Cell ◽  
Acute Lymphoblastic Leukaemia ◽  
Lymphoblastic Leukaemia ◽  
Response To Treatment ◽  
Cytotoxic Molecules

scholarly journals A study on the predictability of acute lymphoblastic leukaemia response to treatment using a hybrid oncosimulator

2017 ◽  
Vol 8 (1) ◽  
pp. 20160163 ◽  
Author(s):  
Eleftherios Ouzounoglou ◽  
Eleni Kolokotroni ◽  
Martin Stanulla ◽  
Georgios S. Stamatakos
Keyword(s):  
Acute Lymphoblastic Leukaemia ◽  
Treatment Response ◽  
Lymphoblastic Leukaemia ◽  
Mechanistic Model ◽  
Response Prediction ◽  
Response To Treatment ◽  
Computational Optimization ◽  
Model Parameterization ◽  
Number Of Patients ◽  
Parameter Values

Efficient use of Virtual Physiological Human (VPH)-type models for personalized treatment response prediction purposes requires a precise model parameterization. In the case where the available personalized data are not sufficient to fully determine the parameter values, an appropriate prediction task may be followed. This study, a hybrid combination of computational optimization and machine learning methods with an already developed mechanistic model called the acute lymphoblastic leukaemia (ALL) Oncosimulator which simulates ALL progression and treatment response is presented. These methods are used in order for the parameters of the model to be estimated for retrospective cases and to be predicted for prospective ones. The parameter value prediction is based on a regression model trained on retrospective cases. The proposed Hybrid ALL Oncosimulator system has been evaluated when predicting the pre-phase treatment outcome in ALL. This has been correctly achieved for a significant percentage of patient cases tested (approx. 70% of patients). Moreover, the system is capable of denying the classification of cases for which the results are not trustworthy enough. In that case, potentially misleading predictions for a number of patients are avoided, while the classification accuracy for the remaining patient cases further increases. The results obtained are particularly encouraging regarding the soundness of the proposed methodologies and their relevance to the process of achieving clinical applicability of the proposed Hybrid ALL Oncosimulator system and VPH models in general.

scholarly journals E2A-PBX1 fusion in adult acute lymphoblastic leukaemia: biological and clinical features

2003 ◽  
Vol 120 (3) ◽  
pp. 484-487 ◽  
Author(s):  
Robin Foa ◽  
Antonella Vitale ◽  
Marco Mancini ◽  
Antonio Cuneo ◽  
Cristina Mecucci ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukaemia ◽  
Clinical Features ◽  
Lymphoblastic Leukaemia

scholarly journals Down’s syndrome

2019 ◽  
Vol 13 (1) ◽  
pp. 47-52
Author(s):  
Sarah MacLennan
Keyword(s):  
Clinical Features ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Legal Issues ◽  
Chromosome 21 ◽  
Intellectual Impairment ◽  
Nasal Bridge ◽  
Chromosomal Disorders ◽  
Flat Nasal Bridge ◽  
Increased Risk

Down’s syndrome is caused by trisomy of chromosome 21; it is one of the best known chromosomal disorders in humans. It has effects on most body systems, giving rise to a variety of characteristic clinical features including intellectual impairment, short stature, flat face, flat nasal bridge, prominent epicanthic folds, up slanting palpebral fissures and protruding tongue. Down’s syndrome is also associated with an increased risk of other medical conditions. All patients with Down’s syndrome have a degree of intellectual impairment ranging from mild to severe. This article considers the epidemiology, genetics, associated risks, antenatal screening and potential ethico-legal issues relating to the disorder before discussing clinical features, complications and monitoring requirements. Finally, Down’s syndrome management, prognosis, and future diagnostic tests are outlined.

Mania and Down's Syndrome

1993 ◽  
Vol 162 (6) ◽  
pp. 739-743 ◽  
Author(s):  
Sally-Ann Cooper ◽  
Richard A. Collacott
Keyword(s):  
Learning Disabilities ◽  
Family History ◽  
Affective Disorder ◽  
Clinical Features ◽  
Case Reports ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Atypical Presentation ◽  
Rapid Cycling ◽  
History Of

Until recently, it was considered that Down's syndrome precluded a diagnosis of mania, or gave rise to an atypical presentation. There have been seven case reports of mania in people with Down's syndrome and all these cases are reviewed. The clinical features of mania are noted to be similar to those previously described in individuals with learning disabilities due to other causes. However, all reported cases are male and none has a family history of affective disorder. In two of the seven men reported, the illness followed a rapid cycling pattern. Hypothyroidism and monoamine biochemistry in people with Down's syndrome are discussed in the context of these atypical features.

scholarly journals Adult acute lymphoblastic leukaemia: A study of prognostic features and response to treatment over a ten year period

1986 ◽  
Vol 53 (2) ◽  
pp. 175-180 ◽  
Author(s):  
R E Marcus ◽  
D Catovsky ◽  
S A Johnson ◽  
W M Gregory ◽  
J G Talavera ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukaemia ◽  
Lymphoblastic Leukaemia ◽  
Response To Treatment ◽  
Prognostic Features

scholarly journals Immunophenotypic and clinical features of T‐cell receptor γδ+T‐lineage acute lymphoblastic leukaemia

1998 ◽  
Vol 101 (4) ◽  
pp. 753-755 ◽  
Author(s):  
Gisela Schott ◽  
Christian Sperling ◽  
Martin Schrappe ◽  
Richard Ratei ◽  
Mathilde Martin ◽  
...  
Keyword(s):  
T Cell ◽  
Acute Lymphoblastic Leukaemia ◽  
T Cell Receptor ◽  
Clinical Features ◽  
Lymphoblastic Leukaemia ◽  
Cell Receptor
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