scholarly journals “You’re only a carrier” – women and the language of haemophilia

2021 ◽  
Vol 8 (1) ◽  
pp. 128-132
Author(s):  
Steve Chaplin ◽  
Kate Khair
Keyword(s):  
Quality Of Life ◽  
Factor Viii ◽  
Strong Evidence ◽  
18Th Century ◽  
Joint Damage ◽  
Gene Variant ◽  
Factor Viii Activity ◽  
Impaired Quality

Abstract Women who have the gene variant for haemophilia are labelled solely as ‘carriers’ unless they have a factor VIII activity of ≤40%. This term, which describes an individual who can pass on a disorder but are themselves unaffected, reflects a legacy that extends from the 18th century to the present day. There is strong evidence that women labelled as carriers experience heavy periods, joint damage, pain and impaired quality of life. The label ‘carrier’ does not recognise this burden and is associated with guilt, stigma and difficulty accessing care. People living with a long-term disorder should now be described using person-first terminology and it is common to see the term ‘people with haemophilia’. The term ‘carrier’ should be limited to its application in genetics and not used as a catch-all label for women with haemophilia.

Impaired quality of life in patients with treated acromegaly despite long-term biochemically stable disease: Results from a 5-years prospective study

2017 ◽  
Vol 86 (6) ◽  
pp. 806-815 ◽  
Author(s):  
Nikolaos Kyriakakis ◽  
Julie Lynch ◽  
Stephen G. Gilbey ◽  
Susan M. Webb ◽  
Robert D. Murray
Keyword(s):  
Quality Of Life ◽  
Prospective Study ◽  
Stable Disease ◽  
Impaired Quality

OP16 A Patient-centered Value Framework For Healthcare In Hemophilia

2017 ◽  
Vol 33 (S1) ◽  
pp. 8-9 ◽  
Author(s):  
Brian O'Mahony ◽  
Gerard Dolan ◽  
Diane Nugent ◽  
Clifford Goodman
Keyword(s):  
Quality Of Life ◽  
Healthcare Delivery ◽  
Joint Damage ◽  
Developed Countries ◽  
Pathogen Transmission ◽  
Patient Centered ◽  
Access To Treatment ◽  
Age Related

INTRODUCTION:Hemophilia is a rare, inherited bleeding disorder affecting an estimated 400,000 people worldwide (1). Characterized by spontaneous bleeding and long-term, irreversible joint damage, persons with hemophilia are often limited in normal day-to-day activities, including work/school, and require comprehensive care at specialized treatment centers. With replacement therapies extending survival by decades and vastly improving quality of life (QoL), routine prophylaxis is considered the standard-of-care in developed countries. However, due to the cost of replacement factor, access to treatment remains a challenge, and increased scrutiny over funding has been augmented by growing demands on healthcare budgets (2). Thus, the hemophilia community shares a unified goal of objectively defining patient-centered value in hemophilia care.METHODS:Using a three-tiered outcomes hierarchy model initially described by Porter (3), an international, multidisciplinary panel of health economics outcomes researchers and hemophilia experts developed a value framework for decision makers to assess value of various healthcare interventions in hemophilia.RESULTS:The three tiers for assessing value are: (i) Health status achieved/retained; (ii) Process of recovery; and (iii) Sustainability of health. Tier one measures survival, quality of life (QoL), and hemophilia-specific outcomes of bleeding frequency, musculoskeletal complications, and severe bleeds, as well as function/activity (that is, lifestyle impairment). Tier two measures time to initial treatment or recovery and time missed at education/work, as well as disutility of care (that is, inhibitor development, pathogen transmission/infections, orthopedic intervention, and venous access). Tier three measures avoidance of bleeds, maintenance of productive lives, and long-term health, while capturing long-term consequences of insufficient therapy or age-related complications. Applicability of the framework can be demonstrated in areas of healthcare delivery, treatment regimen, and innovation for new therapies.CONCLUSIONS:This value framework represents an initial collaboration with stakeholders to define and organize an array of patient-centric outcomes of importance in hemophilia into a practical tool that can influence treatment and funding decisions in hemophilia care.

scholarly journals Problems of Diagnosis, Conservative Treatment and Long-Term Results of “Mallet Finger” Fracture

2021 ◽  
pp. 42-50
Author(s):  
A.A. Bezuhlyi ◽  
A.S. Lysak
Keyword(s):  
Quality Of Life ◽  
Upper Extremity ◽  
Distal Phalanx ◽  
Diagnosis And Treatment ◽  
Long Term Results ◽  
Mallet Finger ◽  
Dorsal Edge ◽  
Impaired Quality

Summary. Distal phalanx dorsal edge fracture is treated in a relatively simple closed manner during the first weeks after injury. The role of the distal interphalangeal joint in the upper extremity integral function reaches conventionally only a few percent. This may lead to insufficient attention and a large number of mistakes in diagnosis and treatment of such injuries, which in turn provokes complications that are much more difficult to treat than the primary injury. This article considers the most common problems of diagnosis and treatment of “mallet finger” fractures. Advantages and disadvantages of various techniques used in the treatment of such fractures in acute and neglected cases are considered and analyzed. Objective: to study the effect of distal phalanx dorsal edge avulsive fractures on function of the upper limb, quality of life, and depression rate in long term period after injury. Materials and Methods. Data from 11 patients (8 (88%) males and 3 (12%) females) with neglected cases of distal phalanx dorsal edge avulsive fractures were studied. QuickDASH questionnaire and visual analog scales were used to study impaired quality of life and depression rate in such patients. Indicators that lead to the need for surgery in long term period after injury have been identified. Results. It was determined that in long term period, in patients with a “mallet finger” fracture, function of the upper extremity suffered significantly and was 29.2±20.2 points (range 2.3-75) according to QuickDASH scale. This condition also significantly affected the general well-being of the patient. Average value of impaired quality of life was 43.6±24.6 (range 0-90 points), and depression rate due to upper extremity dysfunction was 44.6±22.7 (range 0-90 points). Conclusions. Despite the relatively minor injury, high rates of dysfunction, impact on quality of life and depression rate indicate the need to restore finger function even in long term period after injury.

scholarly journals Long-Term Impaired Quality of Life in Cushing’s Syndrome despite Initial Improvement after Surgical Remission

2006 ◽  
Vol 91 (2) ◽  
pp. 447-453 ◽  
Author(s):  
John R. Lindsay ◽  
Tonya Nansel ◽  
Smita Baid ◽  
Julie Gumowski ◽  
Lynnette K. Nieman
Keyword(s):  
Quality Of Life ◽  
Cushing’S Syndrome ◽  
Cushing's Syndrome ◽  
Initial Improvement ◽  
Impaired Quality

Impaired quality of life in patients with acromegaly despite long-term disease control: results from a longitudinal study

2015 ◽  
Author(s):  
Nikolaos Kyriakakis ◽  
Julie Lynch ◽  
John O'Dwyer ◽  
Stephen G Gilbey ◽  
Robert D Murray
Keyword(s):  
Quality Of Life ◽  
Longitudinal Study ◽  
Disease Control ◽  
Impaired Quality

scholarly journals Affected Illness Perceptions and the Association with Impaired Quality of Life in Patients with Long-Term Remission of Acromegaly

2011 ◽  
Vol 96 (11) ◽  
pp. 3550-3558 ◽  
Author(s):  
Jitske Tiemensma ◽  
Adrian A. Kaptein ◽  
Alberto M. Pereira ◽  
Johannes W. A. Smit ◽  
Johannes A. Romijn ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Illness Perceptions ◽  
Impaired Quality

scholarly journals Bariatric Surgery: Preoperative Assessment

2020 ◽  
Author(s):  
Hawa Juma El-Shareif
Keyword(s):  
Quality Of Life ◽  
Bariatric Surgery ◽  
Metabolic Profile ◽  
Preoperative Assessment ◽  
Surgical Mortality ◽  
Surgical Evaluation ◽  
Impaired Quality ◽  
Rule Out

Obesity is associated with increased morbidity and mortality and impaired quality of life. Weight losse is associated with improvement or even cure of cardiovascular risk factors with cardiometabolic benefit. nonsurgical measures for weight loss is rarely successful in the long term. Bariatric surgery has achieved clear success in reversing the abnormal metabolic profile associated with obesity. Pre surgical evaluation is important to rule out any medical or psychological problems that increased the surgical mortality or adversely affect the outcome.

A High Purity Factor VIII/vWF Complex Concentrate Is Effective in the Management of Mild Hemophillia A with Inhibitors: A Case Report.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 3959-3959
Author(s):  
Srivasavi Dukka ◽  
Susan Kaye ◽  
John Ashcroft ◽  
Anita Hill ◽  
Liakat A. Parapia
Keyword(s):  
Quality Of Life ◽  
Case Report ◽  
Factor Viii ◽  
Immune Tolerance ◽  
High Purity ◽  
Low Dose ◽  
Clinical Parameters ◽  
Factor Viii Activity ◽  
Inhibitor Development

Abstract Introduction: Inhibitor development in Mild Haemophilia A (MHA) is an uncommon complication, occurring in approximately 15% of MHA patients. Risk factors associated with the development of inhibitors in MHA include change in recombinant factor VIII (rFVIII), intensive replacement therapy, immunological challenges and missense mutations in the FVIII gene, including Tyr2105Cys mutation on exon 22. Only few reports have addressed the therapeutic options to eradicate these inhibitors, either by immune tolerance or immunosuppressive protocols. Patient: We present a case report of a 36-year-old MHA patient (original factor VIII activity of 17.5% (10–20%) with a Tyr2105Cys mutation. He developed a low titre inhibitor after intensive exposure to rFVIII to cover for spinal epidural steroid injection, switch of recombinant product (full length rFVIII to B-domain deleted rFVIII) and intensive antiviral treatment (pegylated interferon and ribavarin) for Hepatitis C. His quality of life was very poor due to recurrent spontaneous bleeds - ecchymoses, haematomas and haemarthroses. His baseline factor VIII activity dropped to 1% with an initial inhibitor titre of 2.6 BU and factor VIII recovery of less than 25%. Results: The patient responded positively when started on an immune tolerance protocol with a low dose of high purity FVIII/vWF complex concentrate. All clinical parameters improved two weeks after commencing 50 IU/kg on alternate days of the high purity FVIII/vWF product. FVIII recovery levels improved to 50% and he was asymptomatic in terms of bleeding manifestations for the following 17 weeks. Inhibitor titres stabilised at 3.5 BU. Recently, the recovery levels dropped to 26% and the frequency of bleeds increased, necessitating treatment with additional doses. The immune tolerance dose of the high purity FVIII/vWF was increased to 100IU/kg/day. Haemostatic and clinical parameters again recovered (factor VIII recovery levels of 43%) with no further spontaneous bleeds. Conclusions: The use of recombinant factor VIII, especially high intensity replacement may pose a risk of inhibitor development and bleeding complications during the management of MHA patients with Tyr2105Cys mutation. An immune tolerance protocol with FVIII/vWF concentrate is effective in the management of MHA patients with inhibitors and can improve the quality of life soon after the start of the treatment. There is no anamnestic response observed. Though low dose immune-tolerance protocol may be effective, the benefits may be short-lasting, necessitating treatment with high daily dose protocol.

scholarly journals Impaired quality of life in patients in long-term remission of Cushing's syndrome of both adrenal and pituitary origin: a remaining effect of long-standing hypercortisolism?

2012 ◽  
Vol 167 (5) ◽  
pp. 687-695 ◽  
Author(s):  
M A E M Wagenmakers ◽  
R T Netea-Maier ◽  
J B Prins ◽  
T Dekkers ◽  
M den Heijer ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Patient Group ◽  
Cushing’S Syndrome ◽  
Negative Influence ◽  
Cushing's Syndrome ◽  
Control Group ◽  
Cross Sectional ◽  
Impaired Quality

Objective The determinants that cause impaired quality of life (QOL) in patients in long-term remission of Cushing's syndrome (CS) are unknown. The aim of this study was to get more insight into the patient and disease characteristics related to impaired QOL in these patients. Design Cross-sectional study. Methods The QOL of 123 patients in remission of CS (age 52.2±12.0 years, 106 women, duration of remission 13.3±10.4 years, 80% pituitary CS), assessed with seven validated questionnaires, was compared with the QOL of an age- and sex-matched control group (n=105). To investigate the influence of the aetiology of CS on QOL, patients in remission of pituitary and adrenal CS were compared. Furthermore, the influence of hormonal deficiencies, treatment strategy, duration of remission, gender and age on QOL was investigated. Results QOL in the total patient group and each patient subgroup was significantly worse on practically all dimensions of questionnaires compared with the control group (P<0.05), except for patients in remission of pituitary CS without hormonal deficiencies who had an impaired QOL on 50% of the QOL dimensions. Subgroup analysis revealed no difference in QOL between different patient groups, especially no difference between patients in remission of adrenal and pituitary CS. Female gender and a shorter duration of remission had a negative influence on QOL in the patient group. Conclusions QOL remains impaired in patients in long-term remission of CS regardless of aetiology, presence of hormonal deficiencies and treatment strategies. More research is needed to establish the causes.

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