Glycine administration attenuates progression of dystrophic pathology in prednisolone-treated dystrophin/utrophin null mice

Abstract Duchenne muscular dystrophy (DMD) is an X-linked genetic disease characterized by progressive muscle wasting and weakness and premature death. Glucocorticoids (e.g. prednisolone) remain the only drugs with a favorable impact on DMD patients, but not without side effects. We have demonstrated that glycine preserves muscle in various wasting models. Since glycine effectively suppresses the activity of pro-inflammatory macrophages, we investigated the potential of glycine treatment to ameliorate the dystrophic pathology. Dystrophic mdx and dystrophin-utrophin null (dko) mice were treated with glycine or L-alanine (amino acid control) for up to 15 weeks and voluntary running distance (a quality of life marker and strong correlate of lifespan in dko mice) and muscle morphology were assessed. Glycine increased voluntary running distance in mdx mice by 90% (P < 0.05) after 2 weeks and by 60% (P < 0.01) in dko mice co-treated with prednisolone over an 8 week treatment period. Glycine treatment attenuated fibrotic deposition in the diaphragm by 28% (P < 0.05) after 10 weeks in mdx mice and by 22% (P < 0.02) after 14 weeks in dko mice. Glycine treatment augmented the prednisolone-induced reduction in fibrosis in diaphragm muscles of dko mice (23%, P < 0.05) after 8 weeks. Our findings provide strong evidence that glycine supplementation may be a safe, simple and effective adjuvant for improving the efficacy of prednisolone treatment and improving the quality of life for DMD patients.

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The Effect of Opiocephalus striatus Extract on Leptin, Adiponectin and COPD Assessment Test Scores on Stable COPD Patients Experiencing Muscle Wasting

Jurnal Respirologi Indonesia ◽

10.36497/jri.v38i3.5 ◽

2018 ◽

Vol 38 (3) ◽

pp. 158-163

Author(s):

Komang Sri Rahayu Widiasari ◽

Susanthy Djajalaksana ◽

Harun Al Rasyid

Keyword(s):

Quality Of Life ◽

Muscle Wasting ◽

Nutrition Therapy ◽

Chronic Obstructive ◽

Obstructive Pulmonary Disease ◽

Copd Patients ◽

Before And After ◽

Quasi Experimental ◽

Physiology Laboratory

Background: Muscle wasting is one of extrapulmonary manifestations that occur in 20-40% of patients with COPD as a result of an imbalance of protein synthesis and degradation, where it is thought to be a consequence of chronic inflammation. One of the factor that affect muscle wasting is nutritional factor. The purpose of this study is to prove that nutrition therapy can improve inflammation (measured by levels of leptin, adiponectin) further improve muscle wasting and improve the quality of life of patients COPD with muscle wasting. Method: The clinical study design is pre and post auto control quasi experimental in stable COPD patients with comorbid muscle wasting. The experiment was conducted in Pulmonary Outpatient Clinic Dr. Saiful Anwar Hospital and Physiology Laboratory of Medical Faculty Brawijaya University. Chronic obstructive pulmonary disease was diagnosed based on 2014 GOLD criteria. Muscle wasting was diagnosed through examination of the BIA. Levels of leptin and adiponectin was measured using ELISA method, and quality of life was assessed using CAT score. We measured BIA, Leptin, Adiponectin and CAT in 32 COPD patients with muscle wasting, before and after 12 weeks supplementation of Opiocephalus striatus extract 3x1000mg/day. Results: There were significant increased of BMI (p = 0.046), no significant increase of FFMI (p = 0506), a significant decrease in leptin levels (p = 0.000) and a significant increase in adiponectin levels (p = 0.048) and improvement of quality of life (score CAT) (p = 0.000) ) after administration of opiocephalus striatus extract for 12 weeks. Conclusion: Suplementation of Opiocephalus striatus extract for 12 weeks can improve BMI, decrease levels of leptin and increase level of adiponectin resulting in improvement of quality of life in stable COPD patients with muscle wasting.

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Health related quality of life and disease activity in patients with ulcerative colitis before and during high dose prednisolone treatment

Gastroenterology ◽

10.1016/s0016-5085(00)82574-3 ◽

2000 ◽

Vol 118 (4) ◽

pp. A124

Author(s):

Benedicte V. Wilson ◽

Karsten Lauritsen

Keyword(s):

Quality Of Life ◽

Ulcerative Colitis ◽

Disease Activity ◽

High Dose ◽

Health Related Quality ◽

Prednisolone Treatment ◽

Related Quality ◽

Health Related

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The Potential of mHealth as a Game Changer for the Management of Sickle Cell Disease in India (Preprint)

10.2196/preprints.25496 ◽

2020 ◽

Author(s):

Ravindra Kumar ◽

Aparup Das

Keyword(s):

Quality Of Life ◽

Sickle Cell Disease ◽

Sickle Cell ◽

Digital Technology ◽

Genetic Disease ◽

Drug Adherence ◽

Cell Disease ◽

Mhealth Apps ◽

Game Changer

UNSTRUCTURED Sickle cell disease (SCD) is a chronic genetic disease that requires lifelong therapy and monitoring. Low drug adherence and poor monitoring may lead to an increase in morbidities and low quality of life. In the era of digital technology, various mobile health (mHealth) apps are being tested for their potential in increasing drug adherence in patients with SCD. We herewith discuss the applicability and feasibility of these mHealth apps for the management of SCD in India.

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Liver transplantation

Oxford Textbook of Medicine ◽

10.1093/med/9780199204854.003.152205_update_001 ◽

2010 ◽

pp. 2505-2512

Author(s):

Gideon M. Hirschfield ◽

Michael E.D. Allison ◽

Graeme J.M. Alexander

Keyword(s):

Quality Of Life ◽

Liver Transplantation ◽

Liver Disease ◽

Genetic Disease ◽

Acceptable Quality ◽

One Year

Liver transplantation is considered for patients with liver disease that is predicted to shorten life or causes symptoms that preclude an acceptable quality of life and for individuals with life-shortening genetic disease that can be cured by transplantation. One-year survival exceeds 90%, 5-year survival approaches 80%, and individual median survivals exceed 20 years....

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The Effect of Ophiocephalus Striatus Extract on suPAR, Neutrophil Levels and Lung Diffusion Capacity (DLCO) in Stable Chronic Obstructive Pulmonary Disease (COPD) Patients with Muscle Wasting

Jurnal Respirologi Indonesia ◽

10.36497/jri.v39i2.56 ◽

2019 ◽

Vol 39 (2) ◽

pp. 79-87

Author(s):

Sasongko Adhi Nugroho ◽

Teguh Rahayu Sartono ◽

Susanthy Djajalaksana ◽

Harun Al Rasyid

Keyword(s):

Quality Of Life ◽

Chronic Obstructive Pulmonary Disease ◽

Pulmonary Disease ◽

Muscle Wasting ◽

Fat Free Mass ◽

Chronic Obstructive ◽

Obstructive Pulmonary Disease ◽

Diffusion Capacity ◽

Copd Patients

Background: Muscle wasting is one of the extrapulmonary manifestation which influence quality of life in Chronic Obstructive Pulmonary Disease (COPD) patients. It caused by imbalance of protein metabolism in skeletal muscle. This study aimed to evaluate the effect of Ophiocephalus striatus extract on neutrophil count, soluble urokinase-type plasminogen activator (suPAR) level, diffusion capacity of lung for carbon monoxide (DLCO) and quality of life in stable COPD patients with muscle wasting. Methods: Clinical pre and post quasi experimental study was conducted to 32 stable muscle-wasted COPD patients from Pulmonary Outpatient Clinic Saiful Anwar Hospital Malang, determined by The Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2016, Bioelectrical impedance analysis (BIA) dengan fat-free mass (FFM)

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Imagining Life with a Genetic Disorder: The Challenge of Evaluating Health States that Exist from Birth

OBM Genetics ◽

10.21926/obm.genet.2102130 ◽

2021 ◽

Vol 05 (02) ◽

pp. 1-1

Author(s):

Diane B. Paul ◽

◽

Keyword(s):

Quality Of Life ◽

Genetic Disease ◽

Personal Experience ◽

Genetic Disorder ◽

Dietary Treatment ◽

Health State ◽

Health States ◽

Effectiveness Analysis

This article explores difficulties encountered by those with no personal experience of a chronic disease or disability in accurately evaluating the quality of life with a condition present from birth. In most countries, cost-effectiveness analysis relies on ratings of health states by members of the general population, who must try to imagine what life for those affected is like based on (usually brief) descriptions of the conditions. That task is challenging for reasons that have been well-discussed in the literature. This article employs a detailed case-study of dietary treatment for the genetic disease phenylketonuria to identify additional, unrecognized challenges that arise in the case of conditions experienced from birth (or early childhood) and considers some implications of these difficulties for practices in health-state valuation.

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Long term management of obstructive sleep apnea and its comorbidities

Multidisciplinary Respiratory Medicine ◽

10.4081/mrm.2019.24 ◽

2019 ◽

Vol 14 ◽

Cited By ~ 1

Author(s):

Marta Marin-Oto ◽

Eugenio E. Vicente ◽

Jose M. Marin

Keyword(s):

Quality Of Life ◽

Obstructive Sleep Apnea ◽

Sleep Apnea ◽

Premature Death ◽

Driving Ability ◽

Obstructive Sleep ◽

Long Term Treatment ◽

Term Management

Obstructive sleep apnea (OSA) is a worldwide highly prevalent disease associated with systemic consequences, including excessive sleepiness, impairment of neurocognitive function and daytime performance, including driving ability. The long-term sequelae of OSA include and increase risk for cardiovascular, cerebrovascular and metabolic syndrome disorders that ultimately lead to premature death if untreated. To ensure optimal long-term outcomes, the assessment and management of OSA should be personalized with the involvement of the appropriate specialist. Most studies have demonstrated inmediate improvement in daytime somnolence and quality of life with CPAP and other therapies, but the effect of long-term treatment on mortality is still under debate. Currently, the long-term management of OSA should be based on a) identifying physiological or structural abnormalities that are treatable at the time of patient evaluation and b) comprehensive lifestyle interventions, especially weight-loss interventions, which are associated with improvements in OSA severity, cardiometabolic comorbidities, and quality of life. In long-term management, attention should be paid to the clinical changes related to a potential reoccurrence of OSA symptoms and it is also necessary to monitor throughout the follow up how the main associated comorbidities evolve.

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Inflammation Based Regulation of Cancer Cachexia

BioMed Research International ◽

10.1155/2014/168407 ◽

2014 ◽

Vol 2014 ◽

pp. 1-7 ◽

Cited By ~ 63

Author(s):

Jill K. Onesti ◽

Denis C. Guttridge

Keyword(s):

Quality Of Life ◽

Skeletal Muscle ◽

Cancer Cachexia ◽

Molecular Mechanisms ◽

Muscle Wasting ◽

Nutritional Intake ◽

Clinical Implications ◽

Life Outcomes ◽

Skeletal Muscle Wasting

Cancer cachexia, consisting of significant skeletal muscle wasting independent of nutritional intake, is a major concern for patients with solid tumors that affects surgical, therapeutic, and quality of life outcomes. This review summarizes the clinical implications, background of inflammatory cytokines, and the origin and sources of procachectic factors including TNF-α, IL-6, IL-1, INF-γ, and PIF. Molecular mechanisms and pathways are described to elucidate the link between the immune response caused by the presence of the tumor and the final result of skeletal muscle wasting.

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Pharmacotherapy of Down’s Syndrome: When and Which?

CNS & Neurological Disorders - Drug Targets ◽

10.2174/1871527318666191114092924 ◽

2020 ◽

Vol 18 (10) ◽

pp. 750-757

Author(s):

Seyed K. Tayebati ◽

Alessandro Cecchi ◽

Ilenia Martinelli ◽

Elisa Carboni ◽

Francesco Amenta

Keyword(s):

Quality Of Life ◽

Genetic Disease ◽

Ethical Issues ◽

Treatment Strategies ◽

Ts65dn Mouse ◽

Hearing Disorders ◽

Main Obstacle ◽

Peptide Derivatives ◽

Modification Treatment

: Down Syndrome (DS) is an essential genetic disease that involves many other body systems along with cerebral functions. The postnatal approach to treat this genetic disease includes intervention on various related disorders (e.g., heart failure, respiratory, oral, ear, and hearing disorders). However, different proposed treatments do not significantly improve the quality of life of these subjects. Another approach to the treatment of DS considering the possibility to intervene on the embryo was recently introduced. As of this, the current study has reviewed different outcomes regarding DS treatment in an animal model, namely the Ts65Dn mouse. The obtained results encouraged spending more time, efforts, and resources in this field. Besides, various treatment strategies were tried to include genetic modification, treatment with vasoactive intestinal peptide derivatives or fluoxetine. However, the main obstacle to the use of these possible treatments is the ethical issues it raises. The progression of the pregnancy in spite of awareness that DS affects the unborn and prenatal treatment of DS injured embryo are relevant dilemmas. Thus, talented researchers should spend more efforts to improve the quality of life for people affected by DS, which will allow probably a better approach to the ethical issues.

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