scholarly journals Mitochondrial Abnormalities in Down Syndrome: Pathogenesis, Effects and Therapeutic Approaches

2018 ◽  
Author(s):  
Antonella Izzo ◽  
Nunzia Mollo ◽  
Rita Cicatiello ◽  
Rita Genesio ◽  
Simona Paladino ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Therapeutic Approaches ◽  
Mitochondrial Abnormalities

scholarly journals Stress Responses in Down Syndrome Neurodegeneration: State of the Art and Therapeutic Molecules

Biomolecules ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 266
Author(s):  
Chiara Lanzillotta ◽  
Fabio Di Domenico
Keyword(s):  
Down Syndrome ◽  
Stress Response ◽  
Stress Responses ◽  
Redox Balance ◽  
Antioxidant Response ◽  
Chromosome 21 ◽  
Therapeutic Approaches ◽  
Genomic Disorder ◽  
Therapeutic Molecules ◽  
Early Alzheimer’S Disease

Down syndrome (DS) is the most common genomic disorder characterized by the increased incidence of developing early Alzheimer’s disease (AD). In DS, the triplication of genes on chromosome 21 is intimately associated with the increase of AD pathological hallmarks and with the development of brain redox imbalance and aberrant proteostasis. Increasing evidence has recently shown that oxidative stress (OS), associated with mitochondrial dysfunction and with the failure of antioxidant responses (e.g., SOD1 and Nrf2), is an early signature of DS, promoting protein oxidation and the formation of toxic protein aggregates. In turn, systems involved in the surveillance of protein synthesis/folding/degradation mechanisms, such as the integrated stress response (ISR), the unfolded stress response (UPR), and autophagy, are impaired in DS, thus exacerbating brain damage. A number of pre-clinical and clinical studies have been applied to the context of DS with the aim of rescuing redox balance and proteostasis by boosting the antioxidant response and/or inducing the mechanisms of protein re-folding and clearance, and at final of reducing cognitive decline. So far, such therapeutic approaches demonstrated their efficacy in reverting several aspects of DS phenotype in murine models, however, additional studies aimed to translate these approaches in clinical practice are still needed.

Pitfalls And Hopes in Down Syndrome Therapeutic Approaches: In the Search for Evidence-Based Treatments

2006 ◽  
Vol 36 (3) ◽  
pp. 454-468 ◽  
Author(s):  
Mara Dierssen ◽  
Jon Ortiz-Abalia ◽  
Glòria Arqué ◽  
María Martínez de Lagrán ◽  
Cristina Fillat
Keyword(s):  
Down Syndrome ◽  
Evidence Based ◽  
Therapeutic Approaches ◽  
Evidence Based Treatments

Induction Therapy Failures in Down Syndrome Patients with Acute Myelogenous Leukemia.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4527-4527
Author(s):  
Thomas W. Loew ◽  
Alan Gamis ◽  
Franklin O. Smith ◽  
Gita V. Massey ◽  
William G. Woods ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Induction Therapy ◽  
Acute Myelogenous Leukemia ◽  
Progressive Disease ◽  
Survival Rates ◽  
Myelogenous Leukemia ◽  
Therapeutic Approaches ◽  
Time To Death ◽  
Acute Myelogenous ◽  
Matched Sibling

Abstract Down Syndrome (DS) is known to increase the risk of acute myelogenous leukemia. Recent cooperative group clinical trials, POG 9421 and CCG 2891, using standard timing and cytarabine/daunomycin based chemotherapy achieved induction rates of 95% and 91%, respectively. In 218 total patients (57 on 9421, 161 on standard timing arm of 2891), 17 induction failures occurred (3/57 on 9421, 14/161 on 2891). Analysis of the 17 induction failures demonstrated 6 died of toxicity/other causes (2 on 9421, 4 on 2891) and 11 failed to achieve complete remission (CR) with initial induction therapy (1 on 9421, 10 on 2891). Overall survival (OS) for patients not achieving CR with induction therapy was 9% (1 of 11). For the 10 who failed to achieve CR and subsequently died, median time to death was 10 months (range 3–59). Available data for these 11 patients indicate 10 underwent at least one attempt to induce a remission using other therapies with cytarabine in combination with asparaginase, anthracycline or etoposide being the most common regimen. The longest survivor was still alive 96 months post on-study after reinduction with mitoxantrone/cytarabine therapy. Three patients received bone marrow transplants (all allogeneic, 1 known matched sibling). One patient was transplanted still in relapse and died of progressive disease 10 months post on-study. One patient died of GvHD 59 months post on-study. While overall induction rates for patients with DS and AML are high (92% versus 78% for non-DS patients), survival rates for induction failures are dismal. Reevaluation of therapeutic approaches to DS patients failing induction chemotherapy is indicated.

scholarly journals Dolphin therapy

2017 ◽  
Vol 60 (2) ◽  
pp. 154
Author(s):  
E. GOUVA (Ε. ΓΚΟΥΒΑ) ◽  
A. ERGOLAVOU (Α. ΕΡΓΟΛΑΒΟΥ) ◽  
I. PASCHOS (Ι. ΠΑΣΧΟΣ) ◽  
C. PERDIKARIS (Κ. ΠΕΡΔΙΚΑΡΗΣ) ◽  
C. NATHANAILIDES (Κ. ΝΑΘΑΝΑΗΛΙΔΗΣ) ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Depression Symptoms ◽  
Therapeutic Approaches ◽  
Hyperkinetic Syndrome ◽  
Brain Hemispheres ◽  
Cognitive Difficulties ◽  
Positive Effects ◽  
The Central Nervous System ◽  
Scientific Results ◽  
The Impact

Dolphin therapy emerged during the 1950s. The work of Dr. John Lilly played an important role, since he investigated the impact of dolphins on disabled people. From 1978 onwards, the therapeutic aid of dolphins was further advanced, especially after the success of Dr Davis Nathanson with Down-syndrome children and Dr. Ludmila Lukina, who developed many therapeutic methods. The therapeutic method is based on the hypersonic stimulus transmitted by the dolphin sonar (a strong organ at the top of the head, which helps dolphins to produce and receive sounds) towards the central nervous system of humans, resulting in the synchronization of brain hemispheres for a certain period (brain waves are concerted in both hemispheres regarding frequency and phase), which is in turn contemplated as neurologically uncommon. The scientific experience of supplementary therapeutic approaches using dolphins reinforces the classical medical therapies and has provided solid proofs of positive effects of such programmes on: autism, Rett syndrome, Down syndrome, mental delay, brain paralysis, depression, cognitive difficulties, hyperkinetic syndrome. Therapeutic centres, such as Dolphin Assisted Therapy, provide various therapeutic programs of different duration, targeting to assist people with a variety of problems. Scientific results documented that dolphins affect the speech during interaction with humans, decrease the depression symptoms and reduce the pain in people suffering from multiple sclerosis. The present work provides up to date data regarding dolphin therapy in a worldwide context. It is actually a thorough literature review, which attempts to cover a gap in the field of therapeutic contribution of animals to human's health.

scholarly journals An integrated route to identifying new pathogenesis-based therapeutic approaches for trisomy 21 (Down Syndrome) following the thought of Jérôme Lejeune

2013 ◽  
Vol 1 (1) ◽  
Author(s):  
Pierluigi Strippoli ◽  
Maria Chiara Pelleri ◽  
Maria Caracausi ◽  
Lorenza Vitale ◽  
Allison Piovesan ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Therapeutic Approaches

Nanotheranostic agents for neurodegenerative diseases

2020 ◽  
Vol 4 (6) ◽  
pp. 645-675
Author(s):  
Parasuraman Padmanabhan ◽  
Mathangi Palanivel ◽  
Ajay Kumar ◽  
Domokos Máthé ◽  
George K. Radda ◽  
...  
Keyword(s):  
Drug Delivery ◽  
Neurodegenerative Diseases ◽  
Cell Types ◽  
Specific Cell ◽  
Ageing Population ◽  
Target Tissue ◽  
Therapeutic Approaches ◽  
Surface Receptors ◽  
Theranostic Agents ◽  
Preclinical Animal Models

Neurodegenerative diseases (NDDs), including Alzheimer's disease (AD) and Parkinson's disease (PD), affect the ageing population worldwide and while severely impairing the quality of life of millions, they also cause a massive economic burden to countries with progressively ageing populations. Parallel with the search for biomarkers for early detection and prediction, the pursuit for therapeutic approaches has become growingly intensive in recent years. Various prospective therapeutic approaches have been explored with an emphasis on early prevention and protection, including, but not limited to, gene therapy, stem cell therapy, immunotherapy and radiotherapy. Many pharmacological interventions have proved to be promising novel avenues, but successful applications are often hampered by the poor delivery of the therapeutics across the blood-brain-barrier (BBB). To overcome this challenge, nanoparticle (NP)-mediated drug delivery has been considered as a promising option, as NP-based drug delivery systems can be functionalized to target specific cell surface receptors and to achieve controlled and long-term release of therapeutics to the target tissue. The usefulness of NPs for loading and delivering of drugs has been extensively studied in the context of NDDs, and their biological efficacy has been demonstrated in numerous preclinical animal models. Efforts have also been made towards the development of NPs which can be used for targeting the BBB and various cell types in the brain. The main focus of this review is to briefly discuss the advantages of functionalized NPs as promising theranostic agents for the diagnosis and therapy of NDDs. We also summarize the results of diverse studies that specifically investigated the usage of different NPs for the treatment of NDDs, with a specific emphasis on AD and PD, and the associated pathophysiological changes. Finally, we offer perspectives on the existing challenges of using NPs as theranostic agents and possible futuristic approaches to improve them.

Lessons From the Neural Bases of Speech and Voice

2011 ◽  
Vol 21 (1) ◽  
pp. 5-14
Author(s):  
Christy L. Ludlow
Keyword(s):  
Brain Networks ◽  
Neural Substrates ◽  
Voice Behavior ◽  
Therapeutic Approaches ◽  
Neural Bases ◽  
Sound Foundation ◽  
The Brain ◽  
Normal Speech

The premise of this article is that increased understanding of the brain bases for normal speech and voice behavior will provide a sound foundation for developing therapeutic approaches to establish or re-establish these functions. The neural substrates involved in speech/voice behaviors, the types of muscle patterning for speech and voice, the brain networks involved and their regulation, and how they can be externally modulated for improving function will be addressed.

Physiologic Studies Provide New Perspectives on Early Speech Development

2010 ◽  
Vol 20 (2) ◽  
pp. 29-36
Author(s):  
Erin M. Wilson ◽  
Ignatius S. B. Nip
Keyword(s):  
Motor Control ◽  
Motor Development ◽  
Motion Tracking ◽  
Speech Development ◽  
Speech Motor Control ◽  
Therapeutic Approaches ◽  
Facial Motion ◽  
Disordered Speech ◽  
Speech Motor ◽  
Physiologic Data

Abstract Although certain speech development milestones are readily observable, the developmental course of speech motor control is largely unknown. However, recent advances in facial motion tracking systems have been used to investigate articulator movements in children and the findings from these studies are being used to further our understanding of the physiologic basis of typical and disordered speech development. Physiologic work has revealed that the emergence of speech is highly dependent on the lack of flexibility in the early oromotor system. It also has been determined that the progression of speech motor development is non-linear, a finding that has motivated researchers to investigate how variables such as oromotor control, cognition, and linguistic factors affect speech development in the form of catalysts and constraints. Physiologic data are also being used to determine if non-speech oromotor behaviors play a role in the development of speech. This improved understanding of the physiology underlying speech, as well as the factors influencing its progression, helps inform our understanding of speech motor control in children with disordered speech and provide a framework for theory-driven therapeutic approaches to treatment.

Sign in / Sign up

Export Citation Format

Share Document