scholarly journals Prader-Willi Syndrome: Clinical Aspects

2012 ◽  
Vol 2012 ◽  
pp. 1-13 ◽  
Author(s):  
Grechi Elena ◽  
Cammarata Bruna ◽  
Mariani Benedetta ◽  
Di Candia Stefania ◽  
Chiumello Giuseppe
Keyword(s):  
Quality Of Life ◽  
Genetic Disorder ◽  
Clinical Aspects ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Initial Stage ◽  
Prolong Life Expectancy ◽  
Term Management

Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient’s life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. For this reason a Prader-Willi (PW) child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications. During infancy many PW child display a range of behavioural problems that become more noticeable in adolescence and adulthood and interfere mostly with quality of life. Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy.

Improved Motor Proficiency and Quality of Life in Youth With Prader–Willi Syndrome and Obesity 6 Months After Completing a Parent-Led, Game-Based Intervention

2021 ◽  
pp. 1-9
Author(s):  
Daniela A. Rubin ◽  
Kathleen S. Wilson ◽  
Jared M. Tucker ◽  
Diobel M. Castner ◽  
Marilyn C. Dumont-Driscoll ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Prader Willi Syndrome ◽  
Health Related Quality ◽  
Fat Percentage ◽  
Motor Proficiency ◽  
Related Quality ◽  
Health Related

Purpose: To determine changes and potential differences in physical activity (PA), gross motor proficiency (MP), and health parameters after a 6-month follow-up (FU) period following participation in a parent-led PA intervention in youth with or without Prader–Willi syndrome (PWS). Methods: About 42 youth with PWS and 65 youth without PWS but with obesity (body fat percentage >95th percentile for age and sex), aged 8–16 years, participated. The intervention included preplanned PA sessions containing playground and console-based video games scheduled 4 days per week for 24 weeks. Families received training and curriculum materials. PA (accelerometry), MP (Bruininks–Oseretsky Test of MP), and health-related quality of life were obtained before (PRE), after completing the intervention (POST), and at FU. Results: There were no significant changes in PA at any time point. At FU and POST, participants showed higher bilateral coordination (PRE = 9.3 [0.4], POST = 11.7 [0.5], and FU = 11.1 [0.6]); speed and agility (PRE = 9.2 [0.4], POST = 10.8 [0.4], and FU = 11.5 [0.5]); and strength (PRE = 8.0 [0.3], POST = 9.2 [0.3], and FU = 9.2 [0.3]) than at PRE. At FU (80.3 [2.1]) and POST (79.8 [1.7]), youth without PWS showed higher health-related quality of life than PRE (75.0 [1.8]). Conclusion: The improvements in MP and health-related quality of life at FU suggest long-term durability of intervention outcomes.

scholarly journals Adrenal Insufficiency - Aetiology, Diagnosis and Treatment

2015 ◽  
Vol 3 (1) ◽  
pp. 36-47
Author(s):  
Nazma Akter ◽  
Nazmul Kabir Qureshi
Keyword(s):  
Quality Of Life ◽  
Adrenal Insufficiency ◽  
Presenting Symptoms ◽  
Life Saving ◽  
Life Threatening ◽  
Diagnostic Work ◽  
Work Up ◽  
Term Management

Adrenal insufficiency is caused by either primary adrenal failure or by hypothalamic-pituitary impairment of the corticotropic axis. Adrenal insufficiency, first codified in 1855 by Thomas Addison, remains relevant in 2014 because of its lethal nature. Though, it is a rare disease but is life threatening when overlooked. Main presenting symptoms such as fatigue, anorexia and weight loss are nonspecific, thus diagnosis is often delayed. The diagnostic work-up is well established but some pitfalls remain. The diagnosis is adequately established by the 250 ?g ACTH (adrenocorticotropic hormone) stimulation test in most cases. Glucocorticoids provide life saving treatment but long-term quality of life is impaired, perhaps because therapy is not given in a physiologic way. Dehydroepiandrosterone-replacement therapy has been introduced that could help to restore quality of life. It may be useful in pubertal girls, but not in adults. Monitoring of glucocorticoid-replacement is difficult due to lack of objective methods of assessment and is therefore largely based on clinical grounds. Thus, long-term management of patients with adrenal insufficiency remains a challenge, requiring an experienced specialist. DOI: http://dx.doi.org/10.3329/dmcj.v3i1.22238 Delta Med Col J. Jan 2015; 3(1): 36-47

Levocetirizine improves quality of life and reduces costs in long-term management of persistent allergic rhinitis

2004 ◽  
Vol 114 (4) ◽  
pp. 838-844 ◽  
Author(s):  
Claus Bachert ◽  
Jean Bousquet ◽  
G. Walter Canonica ◽  
Stephen R. Durham ◽  
Ludger Klimek ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Allergic Rhinitis ◽  
Persistent Allergic Rhinitis ◽  
Term Management

scholarly journals Clinical aspects of the use of ribociclib

2020 ◽  
pp. 44-56
Author(s):  
A. A. Markovich ◽  
M. V. Kalugin ◽  
O. О. Gordeeva ◽  
M. Zh. Yakoobova
Keyword(s):  
Breast Cancer ◽  
Quality Of Life ◽  
Clinical Practice ◽  
Endocrine Therapy ◽  
Phase Iii ◽  
Clinical Aspects ◽  
Short Term Treatment ◽  
Secondary Resistance

Luminal metastatic HER2-negative breast cancer remains one of the most common cancers in oncological practice. This disease still remains incurable. Endocrine therapy remained the standard therapy of choice for disseminated patients for a long time. The search for new effective drugs, development of strategies that can overcome primary and secondary resistance to endocrinotherapy has shown that the CDK4/6-inhibitors group can improve not only the short-term treatment outcomes, but also affect the overall survival of patients, which has been demonstrated in a number of phase III studies. Along with that, the use of CDK4/6 inhibitors maintains a good quality of life, allows patients to maintain professional and social activities, which is of great importance for long-term prospects. Given that the endocrine therapy combined with CDK4/6-inhibitors today is the new standard of therapy in patients with luminal HER2- negative breast cancer, knowing how to use this therapy in daily clinical practice is crucial. Know and apply innovative drugs in clinical practice and the management of regimen toxicity always my work demands close application. This article provides an overview of the data on the efficacy of ribociclib based on phase III registration studies. It also presents its own clinical experience demonstrating the feasibility of using a new group of drugs in patients both in pre- and postmenopausal women. The authors discussed the issues related to the modification of the regimen due to the toxicity of therapy, in particular, neutropenia and hepatotoxicity. They also showed the possibility of managing adverse events with the preservation of a long-term effect with no loss in quality of life.

scholarly journals Long term management of obstructive sleep apnea and its comorbidities

2019 ◽  
Vol 14 ◽  
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.

Epilepsy: Workup and Management in Adults

2020 ◽  
Vol 40 (06) ◽  
pp. 624-637
Author(s):  
Rebecca O'Dwyer
Keyword(s):  
Quality Of Life ◽  
Chronic Condition ◽  
Chronically Ill ◽  
Psychological Effects ◽  
Family Function ◽  
Chronic Epilepsy ◽  
Patients With Epilepsy ◽  
Term Management

AbstractWhen managing epilepsy, there is a temptation to focus care with respect to the last and the next seizure. However, epilepsy is a multifaceted chronic condition and should be treated as such. Epilepsy comes with many physical risks, psychological effects, and socioeconomic ramifications, demanding a long-term commitment from the treating physician. Patients with epilepsy, compared to other chronically ill patient populations, have a worse quality of life, family function, and less social support. The majority of patients are well controlled on antiseizure drugs. However, approximately one-third will continue to have seizures despite optimized medical management. The primary aim of this article is to explore the long-term management of chronic epilepsy, and to address some of the particular needs of patients with chronic epilepsy.

Dry mouth

Dental Update ◽  
2021 ◽  
Vol 48 (9) ◽  
pp. 761-768
Author(s):  
Shalini Nayee ◽  
Cameron Herbert ◽  
Pepe Shirlaw ◽  
Richard Cook
Keyword(s):  
Quality Of Life ◽  
General Population ◽  
Dental Health ◽  
Dry Mouth ◽  
Common Causes ◽  
The Common ◽  
Term Management ◽  
Dental Professionals

Dry mouth has numerous causes, including medications, radiotherapy and rheumatological conditions, such as Sjögren's syndrome. This article presents the common causes of dry mouth, and details the assessment, investigations and management required for patients with dry mouth within primary dental care, in addition to outlining secondary care investigations and management. CPD/Clinical Relevance: Dry mouth is common in the general population, with widespread implications for dental health and patients' quality of life. Dental professionals have a key role in both its identification and long-term management.

scholarly journals Considerations for transition from subcutaneous to oral prophylaxis in the treatment of hereditary angioedema

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Richard G. Gower ◽  
Mary Wilber
Keyword(s):  
Quality Of Life ◽  
Hereditary Angioedema ◽  
Genetic Disorder ◽  
Subcutaneous Administration ◽  
Case Series ◽  
Case Presentation ◽  
Burden Of Treatment ◽  
Management Plans

Abstract Background Hereditary angioedema (HAE) is a rare genetic disorder characterized by unpredictable localized episodes of edema, which is frequently managed with long-term prophylactic medications. Until recently, long-term prophylaxis has predominantly required regular intravenous or subcutaneous administration, however the recent approval of berotralstat (Orladeyo™) offers an orally administered prophylactic which may be associated with a lower burden of treatment compared to injectable options for some patients. Case presentation This report describes four participants in the APeX-S trial who transitioned from subcutaneously administered lanadelumab (Takhzyro®) to daily oral berotralstat for long-term HAE prophylaxis. Lanadelumab dosing continued after berotralstat commencement in all patients and was tapered before discontinuation in three of the four patients. No substantial increases in HAE attack rates were observed after the transition to berotralstat monotherapy. One patient experienced a treatment-related adverse event (dyspepsia), which was mild and self-resolving. Conclusions All four patients described in this case series successfully transitioned from lanadelumab to berotralstat monotherapy for long-term prophylaxis without significant complications and without the use of a complex transition protocol. The decision to transition to berotralstat monotherapy and how the transition should be achieved was discussed between patient and physician, ensuring that the comfort and perspectives of the patients were considered during the treatment transition. This report highlights the importance of individualization of HAE management plans to address both the disease and treatment burdens of HAE, and thus to provide the best possible quality of life for each patient.

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