Cystic fibrosis - general review on sinonasal complications and case report

2017 ◽  
Vol 7 (25) ◽  
pp. 33-37
Author(s):  
Claudiu Manea ◽  
Alina Diaconescu
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Case Report ◽  
Life Expectancy ◽  
Multiple Organ ◽  
Lower Airway ◽  
General Review ◽  
Organ Systems ◽  
Sinonasal Disease

Abstract An irreversible disease, cystic fibrosis (CF), is responsible for affecting multiple organ systems containing epithelia. It is well known that the sinonasal disease caused by CF has consequences for the incidence of the lower airway exacerbations, as well as affecting the quality of life of those patients. This review provides an update by evaluating the available literature regarding pathogenesis, management and treatment of cystic fibrosis patients. To gain a better view of the disease and obtain a higher life expectancy, further studies are needed.

scholarly journals A Case Report on Late-onset Friedrich's Ataxia and Response on Parkinsonism Treatment

2021 ◽  
pp. 1-5
Author(s):  
Uma Datta Gupta ◽  
Tutul Chowdhury
Keyword(s):  
Quality Of Life ◽  
Case Report ◽  
Life Expectancy ◽  
Late Onset ◽  
Spastic Paraparesis ◽  
Deep Tendon Reflex ◽  
The Past ◽  
Resting Tremor ◽  
Tendon Reflex

Friedrich's ataxia is a progressive neurodegenerative disease that affects the posterior cord of the spinal tract. We present a case of an 83-year-old male with resting tremor and rigidity that had gradually worsened over the past few years. The patient has been diagnosed with Friedrich's ataxia. Unlike typical Friedrich ataxia, this patient does not have a shortened life expectancy. There is a small percentage of atypical patients demonstrate late-onset of disease, isolated spastic paraparesis without ataxia, and retained or exacerbated deep tendon reflex. Although there is no association between Parkinson's disease and Friedrich's ataxia; in our case, treatment of tremor and rigidity improves the patient's quality of life. 

scholarly journals The Changing Face of Cystic Fibrosis and Its Implications for Screening

2020 ◽  
Vol 6 (3) ◽  
pp. 54 ◽  
Author(s):  
Lutz Naehrlich
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Life Expectancy ◽  
Early Diagnosis ◽  
Newborn Screening ◽  
Treatment Options ◽  
Preventive Treatment ◽  
Multidisciplinary Care ◽  
The Face

Early diagnosis, multidisciplinary care, and optimized and preventive treatments have changed the face of cystic fibrosis. Life expectancy has been expanded in the last decades. Formerly a pediatric disease, cystic fibrosis has reached adulthood. Mutation-specific treatments will expand treatment options and give hope for further improvement of quality of life and life expectancy. Newborn screening for CF fits perfectly into these care structures and offers the possibility of preventive treatment even before symptoms occur. Especially in countries without screening, newborn screening will fulfill that promise only with increased awareness and new care structures.

scholarly journals Adult cystic fibrosis care in the 21st century

2015 ◽  
Vol 75 (3) ◽  
Author(s):  
E. Garattini ◽  
D. Bilton ◽  
G. Cremona ◽  
M. Hodson
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Life Expectancy ◽  
21St Century ◽  
Autosomal Recessive ◽  
Therapeutic Strategies ◽  
Complex Care ◽  
Inherited Disease ◽  
Appropriate Care

Cystic fibrosis (CF) is the most common autosomal recessive inherited disease of Caucasian populations. As a result of a variety of diagnostic and therapeutic strategies there has been a dramatic increase in the life expectancy of patients with CF in the last decades and 50% of patients are now adults. This review will focus on the disease in adults and the provision of appropriate care. The complex care required to improve the survival and quality of life in the adult patients can best be provided in a dedicated adult cystic fibrosis unit. These units currently exist in many European countries, but more are needed in Italy.

scholarly journals Gene Therapy: A Possible Alternative to CFTR Modulators?

2021 ◽  
Vol 12 ◽  
Author(s):  
J. Mercier ◽  
M. Ruffin ◽  
H. Corvol ◽  
L. Guillot
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Gene Therapy ◽  
Life Expectancy ◽  
New Technologies ◽  
Gene Replacement ◽  
New Drugs ◽  
Cftr Protein ◽  
The 1960S

Cystic fibrosis (CF) is a rare genetic disease that affects several organs, but lung disease is the major cause of morbidity and mortality. The gene responsible for CF, the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, has been discovered in 1989. Since then, gene therapy i.e., defective gene replacement by a functional one, remained the ultimate goal but unfortunately, it has not yet been achieved. However, patients care and symptomatic treatments considerably increased CF patients’ life expectancy ranging from 5 years old in the 1960s to 40 today. In the last decade, research works on CFTR protein structure and activity led to the development of new drugs which, by readdressing CFTR to the plasma membrane (correctors) or by enhancing its transport activity (potentiators), allow, alone or in combination, an improvement of CF patients’ lung function and quality of life. While expected, it is not yet known whether taking these drugs from an early age and for years will improve the quality of life of CF patients in the long term and further increase their life expectancy. Besides, these molecules are not available (specific variants of CFTR) or accessible (national health policies) for all patients and there is still no curative treatment. Another alternative that could benefit from new technologies, such as gene therapy, is therefore still attractive, although it is not yet offered to patients. Faced with the development of new CFTR correctors and potentiators, the question arises as to whether there is still a place for gene therapy and this is discussed in this perspective.

Exercise, physical activity, and cystic fibrosis

2017 ◽  
Author(s):  
Susi Kriemler ◽  
Thomas Radtke ◽  
Helge Hebestreit
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Exercise Capacity ◽  
Sweat Glands ◽  
Health Related Quality ◽  
Positive Effects ◽  
Organ Systems ◽  
Related Quality ◽  
Health Related

Cystic fibrosis (CF) is a genetic disease resulting in an impaired mucociliary clearance, chronic bacterial airway infection, and inflammation. The progressive destruction of the lungs is the main cause of morbidity and premature death. Diverse other organ systems such as heart, muscles, bones, gastro-intestinal tract, and sweat glands are often also affected and interfere with exercise capacity. Hence, exercise capacity is reduced as the disease progresses mainly due to reduced functioning of the muscles, heart, and/or lungs. Although there is still growing evidence of positive effects of exercise training in CF on exercise capacity, decline of pulmonary function, and health-related quality of life, the observed effects are encouraging and exercise should be implemented in all patient care. More research is needed to understand pathophysiological mechanisms of exercise limitations and to find optimal exercise modalities to slow down disease progression, predict long-term adherence, and improve health-related quality of life.

Intermediate-term outcomes after paediatric cardiac extracorporeal membrane oxygenation – what is known (and unknown)

2011 ◽  
Vol 21 (S2) ◽  
pp. 118-123 ◽  
Author(s):  
John M. Costello ◽  
David S. Cooper ◽  
Jeffrey P. Jacobs ◽  
Paul J. Chai ◽  
Roxanne Kirsch ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Extracorporeal Membrane Oxygenation ◽  
Cardiac Disease ◽  
Multiple Organ ◽  
Published Data ◽  
Neurodevelopmental Outcomes ◽  
Membrane Oxygenation ◽  
Organ Systems

AbstractThe use of extracorporeal membrane oxygenation in infants and children with cardiac disease who develop refractory cardiogenic shock, cyanosis, or cardiac arrest is increasing. Early mortality in children with cardiac disease who require extracorporeal membrane oxygenation remains an important issue, as only 40% of cannulated patients survive to discharge from the hospital. However, it is encouraging that 90% children who are discharged alive from the hospital after extracorporeal membrane oxygenation are still alive at intermediate-term follow-up. Surviving patients are at risk for long-term dysfunction of multiple organ systems related to their underlying cardiac disease, non-cardiac comorbidities, treatment-related complications, and exposure to extracorporeal membrane oxygenation. Among the most important acute complications related to support with extracorporeal membrane oxygenation is injury to the central nervous system, which may contribute to adverse neurodevelopmental outcomes. All of these factors, in turn, influence quality of life. Many survivors remain medically complex related to their underlying cardiac disease, comorbidities, and sequelae of complications acquired over their lifetime. Neurological morbidity clearly plays an important role in approximately one-third of survivors, with significant deficits in approximately 10%. The limited data about quality of life data that are available for survivors of cardiac extracorporeal membrane oxygenation suggests that approximately 15–30% of survivors have at least moderately decreased quality of life. Overall, published data support the ongoing use of support with extracorporeal membrane oxygenation in children with acute cardiac failure, most of whom would die without it. However, programmatic efforts to improve the selection of patients and the preservation of the function of end organs during extracorporeal membrane oxygenation are clearly needed in order to improve long-term outcomes.

Misophonia: An Evidence-Based Case Report

2020 ◽  
Vol 29 (4) ◽  
pp. 685-690
Author(s):  
C. S. Vanaja ◽  
Miriam Soni Abigail
Keyword(s):  
Quality Of Life ◽  
Case Report ◽  
Case History ◽  
Pure Tone ◽  
Physiological Responses ◽  
Evidence Based ◽  
Management Option ◽  
Pure Tone Audiogram

Purpose Misophonia is a sound tolerance disorder condition in certain sounds that trigger intense emotional or physiological responses. While some persons may experience misophonia, a few patients suffer from misophonia. However, there is a dearth of literature on audiological assessment and management of persons with misophonia. The purpose of this report is to discuss the assessment of misophonia and highlight the management option that helped a patient with misophonia. Method A case study of a 26-year-old woman with the complaint of decreased tolerance to specific sounds affecting quality of life is reported. Audiological assessment differentiated misophonia from hyperacusis. Management included retraining counseling as well as desensitization and habituation therapy based on the principles described by P. J. Jastreboff and Jastreboff (2014). A misophonia questionnaire was administered at regular intervals to monitor the effectiveness of therapy. Results A detailed case history and audiological evaluations including pure-tone audiogram and Johnson Hyperacusis Index revealed the presence of misophonia. The patient benefitted from intervention, and the scores of the misophonia questionnaire indicated a decrease in the severity of the problem. Conclusions It is important to differentially diagnose misophonia and hyperacusis in persons with sound tolerance disorders. Retraining counseling as well as desensitization and habituation therapy can help patients who suffer from misophonia.

Cancer pain management

2014 ◽  
Vol 155 (3) ◽  
pp. 93-99
Author(s):  
Péter Heigl
Keyword(s):  
Quality Of Life ◽  
Pain Management ◽  
Pain Relief ◽  
Life Expectancy ◽  
Cancer Pain ◽  
Cancer Pain Management ◽  
Medical Activity ◽  
Short Summary ◽  
Adequate Quality

Pain is a significant and alarming symptom of cancer seriously affecting the activity and quality of life of patients. Recent research proved that inadequate analgesia shortens life expectancy. Therefore, pain relief is not only a possibility but a professional, ethical and moral commitment to relieve patients from suffering, as well as ensure their adequate quality of life and human dignity. Proper pain relief can be achieved with medical therapy in most of the cases and the pharmacological alternatives are available in Hungary. Yet medical activity regarding pain relief is far from the desired. This paper gives a short summary of the guidelines on medical pain management focusing particularly on the use of opioids. Orv. Hetil., 2014, 155(3), 93–99.

“Position Paper” Timely Insulinisation in Type 2 Diabetes Patients

2012 ◽  
Vol 19 (4) ◽  
pp. 441-444
Author(s):  
László Barkai ◽  
Nicolae Hâncu ◽  
György Jermendy ◽  
Maya Konstantinova ◽  
Radu Lichiardopol ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Type 2 Diabetes ◽  
Life Expectancy ◽  
Insulin Therapy ◽  
Metabolic Control ◽  
Current Medical ◽  
Position Paper ◽  
Medical Evidence

AbstractThe objective of this position paper is to review the current medical evidence andguidelines regarding the treatment of type 2 diabetes (T2DM) and to issue medicalrecommendations strengthening the timely use of insulin in patients with T2DMuncontrolled on noninsulin therapy. When noninsulin therapy fails to achieve or tomaintain HbA1c targets, insulin therapy is required. Timely insulin therapy couldprovide proper metabolic control that might prevent complications, lead toimprovement of life expectancy and quality of life.

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