scholarly journals Therapy Development for Epidermolysis Bullosa

2021 ◽  
Author(s):  
Josefina Piñón Hofbauer ◽  
Verena Wally ◽  
Christina Guttmann-Gruber ◽  
Iris Gratz ◽  
Ulrich Koller
Keyword(s):  
Quality Of Life ◽  
Epidermolysis Bullosa ◽  
Systemic Disease ◽  
Treatment Options ◽  
High Variability ◽  
Cell Therapies ◽  
Target Disease ◽  
Life Threatening ◽  
Therapy Development

Although rare genodermatoses such as Epidermolysis bullosa have received more attention over the last years, no approved treatment options targeting causal mutations are currently available. Still, such diseases can be devastating, in some cases even associated with life-threatening secondary manifestations. Therefore, developing treatments that target disease-associated complications along with causal therapies remains the focus of current research efforts, in order to increase patient’s quality of life and potentially their life expectancy. Epidermolysis bullosa is a genodermatosis that is caused by mutations in either one of 16 genes, predominantly encoding structural components of the skin and mucosal epithelia that are crucial to give these barrier organs physical and mechanical resilience to stress. The genetic heterogeneity of the disease is recapitulated in the high variability of phenotypic expressivity observed, ranging from minor and localized blistering to generalized erosions and wound chronification, rendering certain subtypes a systemic disease that is complicated by a plethora of secondary manifestations. During the last decades, several studies have focused on developing treatments for EB patients and significant progress has been made, as reflected by numerous publications, patents, and registered trials available. Overall, strategies range from causal to symptom-relieving approaches, and include gene, RNA and cell therapies, as well as drug developments based on biologics and small molecules. In this chapter, we highlight the most recent and promising approaches that are currently being investigated in order to provide effective treatments for patients with epidermolysis bullosa in the future.

Dermatology

2018 ◽  
Author(s):  
Gemma Simcox
Keyword(s):  
Quality Of Life ◽  
Skin Disease ◽  
Skin Diseases ◽  
Systemic Disease ◽  
Management Plan ◽  
Dermatological Examination ◽  
Common Skin ◽  
Life Threatening ◽  
The Uk

Skin disease has a serious impact on an individual’s quality of life. It is well recognized that conditions such as psoriasis may have a similar impact on a patient’s quality of life to chronic diseases such as diabetes, hypertension, and depression. Skin problems account for approximately 20% of all patient consultations in primary care in the UK. It is important that clinicians are able to diagnose common skin diseases such as acne, eczema, psoriasis, and cutaneous malignancies and initiate an appropriate management plan. This requires the ability to take a full history and conduct a complete examination. A complete dermatological examination involves examination of the entire skin, mucous membranes, hair, and nails. The description of cutaneous pathologies should include the location and distribution of lesions. The morphology of a lesion or each component of a generalized eruption should be noted. Other organ systems may also need to be examined. The questions in this chapter will test your knowledge of the skin problems that are frequently encountered in non-specialist clinical practice. Other more rare skin disorders are also covered, either because they are potentially life-threatening or because they are a sign of systemic disease. The questions are designed to improve your ability to recognize the morphology and distribution of cutaneous physical signs. Hopefully you will find these questions stimulating and an aid to improving your knowledge of skin disease.

scholarly journals Hereditary angioedema: an update on causes, manifestations and treatment

2019 ◽  
Vol 80 (7) ◽  
pp. 391-398 ◽  
Author(s):  
Hilary J Longhurst ◽  
Konrad Bork
Keyword(s):  
Quality Of Life ◽  
Hereditary Angioedema ◽  
Genetic Disorder ◽  
Treatment Options ◽  
Correct Diagnosis ◽  
Self Administration ◽  
Diagnosis And Management ◽  
Life Threatening ◽  
Short And Long Term

Hereditary angioedema is a rare genetic disorder caused by deficiency of C1 esterase inhibitor (C1-INH) and characterized by recurrent episodes of severe swelling that affect the limbs, face, intestinal tract and airway. Since laryngeal oedema can be life-threatening as a result of asphyxiation, correct diagnosis and management of hereditary angioedema is vital. Hereditary angioedema attacks are mediated by bradykinin, the production of which is regulated by C1-INH. Hereditary angioedema therapy relies on treatment of acute attacks, and short- and long-term prophylaxis. Acute treatment options include C1-INH concentrate, icatibant and ecallantide. Self-administration of treatment is recommended and is associated with increased quality of life of patients with hereditary angioedema. Advances in diagnosis and management have improved the outcomes and quality of life of patients with hereditary angioedema.

Pelvic Organ Prolapse

2018 ◽  
Author(s):  
Lennox Hoyte ◽  
Renee Bassaly ◽  
Stuart Hart ◽  
Mona McCullough ◽  
Elisha Jackson
Keyword(s):  
Quality Of Life ◽  
Risk Factors ◽  
Pelvic Organ Prolapse ◽  
Healthcare Provider ◽  
Treatment Options ◽  
Pelvic Organ ◽  
Vaginal Wall ◽  
Life Threatening ◽  
Surgical Options

Pelvic organ prolapse (POP) is the descent of one of more aspects of the vagina and/or uterus. Evaluation of POP always begins with a thorough history and physical examination. Management choices include observation, conservative options, and surgical options. Surgical management is divided into two categories, which are restorative and obliterative. It is important to counsel patients that although POP may affect quality of life, it is not life-threatening. This chapter is designed to guide the healthcare provider with a review of epidemiology, anatomy, evaluation, and management of POP. The chapter contains 14 figures that illustrate examples of common examination findings, devices, and treatment options. Also, there are 5 tables that provide concise reference materials to help guide the healthcare provider. This review contains 91 references, 14 figures, and 6 tables. Key Words: constipation, mesh, pain, pelvic floor, pessary, POP-Q, risk factors, surgery, vaginal wall

Pelvic Organ Prolapse

2018 ◽  
Author(s):  
Lennox Hoyte ◽  
Renee Bassaly ◽  
Stuart Hart ◽  
Mona McCullough ◽  
Elisha Jackson
Keyword(s):  
Quality Of Life ◽  
Risk Factors ◽  
Pelvic Organ Prolapse ◽  
Healthcare Provider ◽  
Treatment Options ◽  
Pelvic Organ ◽  
Vaginal Wall ◽  
Life Threatening ◽  
Surgical Options

Pelvic organ prolapse (POP) is the descent of one of more aspects of the vagina and/or uterus. Evaluation of POP always begins with a thorough history and physical examination. Management choices include observation, conservative options, and surgical options. Surgical management is divided into two categories, which are restorative and obliterative. It is important to counsel patients that although POP may affect quality of life, it is not life-threatening. This chapter is designed to guide the healthcare provider with a review of epidemiology, anatomy, evaluation, and management of POP. The chapter contains 14 figures that illustrate examples of common examination findings, devices, and treatment options. Also, there are 5 tables that provide concise reference materials to help guide the healthcare provider. This review contains 91 references, 14 figures, and 6 tables. Key Words: constipation, mesh, pain, pelvic floor, pessary, POP-Q, risk factors, surgery, vaginal wall

Death at the Beginning

2015 ◽  
Author(s):  
Renee D. Boss
Keyword(s):  
Quality Of Life ◽  
Decision Making ◽  
Prenatal Diagnosis ◽  
Congenital Anomalies ◽  
Pregnancy Termination ◽  
Treatment Options ◽  
Fetal Surgery ◽  
Technological Advances ◽  
Life Threatening

Medical and technological advances permit the survival of many infants born prematurely or with congenital anomalies. Prenatal diagnosis of a life-threatening fetal condition can give families the time to prepare for a sick infant and to consider treatment options ranging from pregnancy termination to fetal surgery. Despite the successes in perinatal and neonatal care, there remain a group of infants whose neonatal complications result in chronic illness, serious disability, and a foreshortened life span. It remains unclear how clinicians can best guide families who wish to make decisions based on their infant’s predicted quality of life. Multiple legal and policy restrictions attempt to limit the scope of parent–clinician decision making for these infants.

Laryngotracheal reconstruction for relapsing polychondritis: case report and review of the literature

2013 ◽  
Vol 127 (9) ◽  
pp. 932-935 ◽  
Author(s):  
C Xie ◽  
N Shah ◽  
P L Shah ◽  
G Sandhu
Keyword(s):  
Quality Of Life ◽  
Hyoid Bone ◽  
Treatment Options ◽  
Relapsing Polychondritis ◽  
Disease Stage ◽  
Improve Quality ◽  
Review Of The Literature ◽  
Laryngotracheal Reconstruction ◽  
Life Threatening

AbstractBackground:Relapsing polychondritis is a multi-system autoimmune disease characterised by the inflammation and destruction of cartilaginous structures. The most common sites are the pinna, nose, laryngotracheobronchial tree and peripheral joints. Airway involvement occurs in up to half of patients affected, at any disease stage. It is the most severe and life-threatening aspect of the disease, and proves to be a therapeutic challenge.Objectives:This article reports our experience of performing laryngotracheal reconstruction in a patient with relapsing polychondritis. A review of the literature is presented, with a focused discussion of airway treatment options.Methods:Laryngotracheal reconstruction for relapsing polychondritis was performed using hyoid bone pedicled on sternohyoid muscle.Conclusion:Airway management in relapsing polychondritis can improve quality of life and palliate patients effectively.

scholarly journals Palliative Care Comics: Designing a Person-Centered Patient Education Tool

2019 ◽  
Vol 43 (2) ◽  
Author(s):  
Mona Li ◽  
Shelley Wall ◽  
Camilla Zimmermann
Keyword(s):  
Quality Of Life ◽  
Palliative Care ◽  
Treatment Options ◽  
Patient Journey ◽  
Narrative Design ◽  
Disease Trajectory ◽  
Life Threatening ◽  
Education Tool ◽  
Timely Referral

Palliative care can improve quality of life in patients facing life-threatening illnesses by addressing their physical, emotional, spiritual, and practical needs. Research has shown that palliative care initiated early in the disease trajectory improves patients’ mood, quality of life, and even survival. Nevertheless, timely referral and willingness to initiate palliative care are hindered by stigma and the misconception that palliative care is for patients who have exhausted treatment options. Well-designed comics may be useful for addressing complex, stigmatized topics, because they are unintimidating, easy to consume, and relatable to readers. Unsurprisingly, educational comics can teach more effectively than text or verbal instruction. Since palliative care is valued by patients for being a person-centered and patient-led experience, comics may be uniquely suited to educate about this topic by embedding information in the context of an individual patient journey. The comic, currently a work-in-progress, will include a didactic narrative about palliative care and a situational narrative describing the patient experience. Feedback from palliative care patients during the development process will inform visual and narrative design of the comic.

Raynaud’s phenomenon and digital ischaemia - pharmacologic approach and alternative treatment options

VASA ◽  
2016 ◽  
Vol 45 (3) ◽  
pp. 201-212 ◽  
Author(s):  
Birgit Linnemann ◽  
Matthias Erbe
Keyword(s):  
Quality Of Life ◽  
Angiotensin Receptor Blockers ◽  
Raynaud’S Phenomenon ◽  
Treatment Options ◽  
Raynaud's Phenomenon ◽  
Tissue Loss ◽  
Receptor Antagonists ◽  
Skin Ulcers ◽  
Digital Ischaemia

Abstract. The primary goal of therapy is to reduce the frequency and intensity of Raynaud’s attacks and to minimize the related morbidity rather than to cure the underlying condition. Treatment strategies depend on whether Raynaud’s phenomenon (RP) is primary or secondary. All patients should be instructed about general measures to maintain body warmth and to avoid triggers of RP attacks. Pharmacologic intervention can be useful for patients with severe and frequent RP episodes that impair the patient’s quality of life. Calcium channel blockers are currently the most prescribed and studied medications for this purpose. There has been limited evidence for the efficacy of alpha-1-adrenergic receptor antagonists, angiotensin receptor blockers, topical nitrates or fluoxetine to treat RP. The intravenously administered prostacyclin analogue iloprost can reduce the frequency and severity of RP attacks and is considered a second-line therapy in patients with markedly impaired quality of life, critical digital ischaemia and skin ulcers who are at risk for substantial tissue loss and amputation. Phosphodiesterase inhibitors (e.g., sildenafil) can also improve RP symptoms and ulcer healing whereas endothelin-1 receptor antagonists (e.g., bosentan) are mainly considered treatment options in secondary prevention for patients with digital skin ulcers related to systemic sclerosis. However, their use in clinical practice has been limited by their high cost. Antiplatelet therapy with low-dose aspirin is recommended for all patients who suffer from secondary RP due to ischaemia caused by structural vessel damage. Anticoagulant therapy can be considered during the acute phase of digital ischaemia in patients with suspected vascular occlusive disease attributed to the occurrence of new thromboses. In patients with critical digital ischaemia, consideration should be given to hospitalisation, optimisation of medical treatment in accordance with the underlying disease and evaluation for a secondary, possibly reversible process that is causing or aggravating the clinical symptoms.

Resveratrol: A new potential therapeutic agent for melanoma?

2019 ◽  
Vol 26 ◽  
Author(s):  
Mohamad Hossein Pourhanifeh ◽  
Kazem Abbaszadeh-Goudarzi ◽  
Mohammad Goodarzi ◽  
Sara G.M. Piccirillo ◽  
Alimohammad Shafiee ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Therapeutic Agent ◽  
Current Knowledge ◽  
Treatment Resistance ◽  
Anti Cancer ◽  
Apoptosis Inducer ◽  
Life Threatening ◽  
First Time

: Melanoma is the most life-threatening and aggressive class of skin malignancies. The incidence of melanoma has steadily increased. Metastatic melanoma is greatly resistant to standard anti-melanomatreatments such as chemotherapy, and 5-year survival rate of cases with melanoma who have metastatic form of disease is less than 10%. The contributing role of apoptosis, angiogenesis and autophagy in the pathophysiology of melanoma has been previously demonstrated. Thus, it is extremely urgent to search for complementary therapeutic approachesthat couldenhance the quality of life of subjects and reduce treatment resistance and adverse effects. Resveratrol, known as a polyphenol component present in grapes and some plants, has anti-cancer properties due to its function as an apoptosis inducer in tumor cells, and anti-angiogenic agent to prevent metastasis. However, more clinical trials should be conducted to prove resveratrol efficacy. : Herein, for first time, we summarize current knowledge of anti-cancerous activities of resveratrol in melanoma.

scholarly journals More comprehensively measuring quality of life in life-threatening illness: the McGill Quality of Life Questionnaire – Expanded

2019 ◽  
Vol 18 (1) ◽  
Author(s):  
S. Robin Cohen ◽  
Lara B. Russell ◽  
Anne Leis ◽  
Javad Shahidi ◽  
Pat Porterfield ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Second Order ◽  
Model Fit ◽  
Life Questionnaire ◽  
Quality Of Life Questionnaire ◽  
Healthcare Environment ◽  
Life Threatening Illness ◽  
Life Threatening ◽  
Order Factor

Abstract Background Domains other than those commonly measured (physical, psychological, social, and sometimes existential/spiritual) are important to the quality of life of people with life-threatening illness. The McGill Quality of Life Questionnaire (MQOL) – Revised measures the four common domains. The aim of this study was to create a psychometrically sound instrument, MQOL – Expanded, to comprehensively measure quality of life by adding to MQOL-Revised the domains of cognition, healthcare, environment, (feeling like a) burden, and possibly, finance. Methods Confirmatory factor analyses were conducted on three datasets to ascertain whether seven new items belonged with existing MQOL-Revised domains, whether good model fit was obtained with their addition as five separate domains to MQOL-Revised, and whether a second-order factor representing overall quality of life was present. People with life-threatening illnesses (mainly cancer) or aged > 80 were recruited from 15 healthcare sites in seven Canadian provinces. Settings included: palliative home care and inpatient units; acute care units; oncology outpatient clinics. Results Good model fit was obtained when adding each of the five domains separately to MQOL-Revised and for the nine correlated domains. Fit was acceptable for a second-order factor model. The financial domain was removed because of low importance. The resulting MQOL-Expanded is a 21-item instrument with eight domains (fit of eight correlated domains: Comparative Fit Index = .96; Root Mean Square Error of Approximation = .033). Conclusions MQOL-Expanded builds on MQOL-Revised to more comprehensively measure the quality of life of people with life-threatening illness. Our analyses provide validity evidence for the MQOL-Expanded domain and summary scores; the need for further validation research is discussed. Use of MQOL-Expanded will enable a more holistic understanding of the quality of life of people with a life-threatening illness and the impact of treatments and interventions upon it. It will allow for a better understanding of less commonly assessed but important life domains (cognition, healthcare, environment, feeling like a burden) and their relationship to the more commonly assessed domains (physical, psychological, social, existential/spiritual).

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