scholarly journals Systemic mastocytosis: variable manifestations can lead to a challenging diagnostic process

2019 ◽  
Vol 12 (8) ◽  
pp. e229967 ◽  
Author(s):  
Susanna Nallamilli ◽  
Aideen O’Neill ◽  
Andrew Wilson ◽  
Mallika Sekhar ◽  
Jonathan Lambert
Keyword(s):  
Quality Of Life ◽  
Bone Marrow ◽  
Cell Clone ◽  
Systemic Mastocytosis ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Diagnostic Process ◽  
Histamine Antagonists ◽  
History Of

Systemic mastocytosis results from proliferation and activation of an abnormal mast cell clone. It is a heterogeneous disorder with clinical manifestations ranging from skin lesions alone to aggressive multi-organ infiltration and decreased survival. Given these varied manifestations, diagnosis can be difficult. We describe the case of a woman who presented with rash and diarrhoea and had a history of anaphylactic reactions. Over a protracted period, the patient’s symptoms were investigated by a number of specialties including gastroenterology, dermatology, immunology and haematology. Morphological, immunohistochemical and molecular analysis of bone marrow samples ultimately led to a diagnosis of systemic mastocytosis. Management with leukotriene and histamine antagonists resulted in significant improvement in symptoms and quality of life. The case serves to highlight the protean manifestations of systemic mastocytosis, the tests available to diagnose it and the agents available to treat it.

scholarly journals A Case of Stiffperson Syndrome

2021 ◽  
Vol 3 (3) ◽  
pp. 52-54
Author(s):  
Mamdouh H. Kalakatawi ◽  
Nusrat Aziz ◽  
Norhan A. K. Mostafa
Keyword(s):  
Quality Of Life ◽  
Multiple Sclerosis ◽  
Neurological Disorders ◽  
Clinical Manifestations ◽  
Ivig Therapy ◽  
Acid Decarboxylase ◽  
Medical Doctors ◽  
Paraspinal Muscles ◽  
History Of

Stiffperson syndrome (SPS) is one of the rarest neurological disorders. It is an autoimmune disease with antibodies against glutamic acid decarboxylase - enzyme needed to produce neurotransmitter GABA. This disease is very debilitating and fatal if not managed in time. A 32-year-old man presented with stiffness of abdominal and thoracolumbar paraspinal muscles first noticed 10 months back. There was history of jerkiness of hands. After excluding other mimicking conditions like multiple sclerosis, parkinsonism and axial dystonia, a diagnosis of Stiffperson syndrome was made. Treatment with IVIG therapy along with anti-spasticity drugs resulted in improved patient outcome. SPS is potentially treatable though cannot be cured. Not one treatment fits all patients with SPS and may have to be tailored according to the clinical manifestations. Increasing awareness in medical doctors and identifying the disease early can help the patients escape the disabling effects of SPS and improve the quality of life.

scholarly journals The Prevalence of Sarcopenia and Its Impact on Clinical Outcomes in Lumbar Degenerative Spine Disease—A Systematic Review and Meta-Analysis

2021 ◽  
Vol 10 (4) ◽  
pp. 773
Author(s):  
Wei-Ting Wu ◽  
Tsung-Min Lee ◽  
Der-Sheng Han ◽  
Ke-Vin Chang
Keyword(s):  
Quality Of Life ◽  
Systematic Review ◽  
Clinical Outcomes ◽  
Meta Analysis ◽  
Clinical Manifestations ◽  
Current Evidence ◽  
Degenerative Spine ◽  
Degenerative Spine Disease ◽  
Spine Disease

The association of sarcopenia with poor clinical outcomes has been identified in various medical conditions, although there is a lack of quantitative analysis to validate the influence of sarcopenia on patients with lumbar degenerative spine disease (LDSD) from the available literature. Therefore, this systematic review and meta-analysis aimed to summarize the prevalence of sarcopenia in patients with LDSD and examine its impact on clinical outcomes. The electronic databases (PubMed and Embase) were systematically searched from inception through December 2020 for clinical studies investigating the association of sarcopenia with clinical outcomes in patients with LDSD. A random-effects model meta-analysis was carried out for data synthesis. This meta-analysis included 14 studies, comprising 1953 participants. The overall prevalence of sarcopenia among patients with LDSD was 24.8% (95% confidence interval [CI], 17.3%–34.3%). The relative risk of sarcopenia was not significantly increased in patients with LDSD compared with controls (risk ratio, 1.605; 95% CI, 0.321–8.022). The patients with sarcopenia did not experience an increase in low back and leg pain. However, lower quality of life (SMD, −0.627; 95% CI, −0.844–−0.410) were identified postoperatively. Sarcopenia did not lead to an elevated rate of complications after lumbar surgeries. Sarcopenia accounts for approximately one-quarter of the population with LDSD. The clinical manifestations are less influenced by sarcopenia, whereas sarcopenia is associated with poorer quality of life after lumbar surgeries. The current evidence is still insufficient to support sarcopenia as a predictor of postoperative complications.

Patients With a History of Oronasal Fistula Repair Exhibit Lower Oral Health Measured With Patient-Centric Outcomes Measures

2020 ◽  
pp. 105566562098133
Author(s):  
Alyssa Fritz ◽  
Diana S. Jodeh ◽  
Fatima Qamar ◽  
James J. Cray ◽  
S. Alex Rottgers
Keyword(s):  
Quality Of Life ◽  
Oral Health ◽  
Cleft Palate ◽  
Fistula Repair ◽  
Old Patients ◽  
Oronasal Fistula ◽  
Patient Reported ◽  
History Of ◽  
The Impact

Introduction: Oronasal fistulae following palatoplasty may affect patients’ quality of life by impacting their ability to eat, speak, and maintain oral hygiene. We aimed to quantify the impact of previous oronasal fistula repair on patients’ quality of life using patient-reported outcome psychometric tools. Methods: A cross-sectional study of 8- to 9-year-old patients with cleft palate and/or lip was completed. Patients who had a cleft team clinic between September 2018 and August 2019 were recruited. Participants were divided into 2 groups (no fistula, prior fistula repair). Differences in the individual CLEFT-Q and Child Oral Health Impact Profile-Short Form 19 (COHIP-SF 19) Oral Health scores between the 2 groups were evaluated using a multivariate analysis controlling for Veau classification and syndromic diagnosis. Results: Sixty patients with a history of cleft palate were included. Forty-two (70%) patients had an associated cleft lip. Thirty-two (53.3%) patients had no history of fistula and 28 (46.7%) patients had undergone a fistula repair. CLEFT-Q Dental, Jaw, and Speech Function were all higher in patients without a history of a fistula repair; however, none of these differences were statistically significant. The COHIP-SF 19 Oral Health score demonstrated a significantly lower score in the fistula group, indicating poorer oral health ( P = .05). Conclusions: One would expect that successful repair of a fistula would result in improved function and patient satisfaction, but the consistent trend toward lower CLEFT-Q scores and significantly increased COHIP-SF 19 Oral Health scores in our study group suggests that residual effects linger and that the morbidity of a fistula may not be completely treated with a secondary correction.

Impact of a History of Hypertension on Symptoms and Quality of Life Prior to and at Five Years after Coronary Artery Bypass Grafting

2000 ◽  
Vol 9 (1) ◽  
pp. 52-63 ◽  
Author(s):  
Johan Herlitz ◽  
Kenneth Caidahl ◽  
Ingela Wiklund ◽  
Helén Sjöland ◽  
Björn Karlson ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Coronary Artery ◽  
Coronary Artery Bypass Grafting ◽  
Coronary Artery Bypass ◽  
Artery Bypass ◽  
Bypass Grafting ◽  
Artery Bypass Grafting ◽  
History Of

scholarly journals “Is this the GVHD?” A qualitative exploration of quality of life issues in individuals with graft-versus-host disease following allogeneic stem cell transplant and their experiences of a specialist multidisciplinary bone marrow transplant service

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Isabella de Vere Hunt ◽  
James M. Kilgour ◽  
Robert Danby ◽  
Andy Peniket ◽  
Rubeta N. Matin
Keyword(s):  
Quality Of Life ◽  
Bone Marrow ◽  
Stem Cell ◽  
Stem Cell Transplantation ◽  
Graft Versus Host Disease ◽  
Allogeneic Stem Cell Transplantation ◽  
Qualitative Data ◽  
Information Provision ◽  
Graft Versus Host

Abstract Background Graft-versus-host disease (GVHD) is a significant cause of morbidity and mortality following allogeneic stem cell transplantation. These patients face unique challenges due to the complexity of GVHD which can affect multiple organ systems, and the toxicity of treatments. Despite the known impact on quality of life (QOL), qualitative data within the bone marrow transplantation (BMT) literature is rare, and there has been no qualitative work exploring patient experience of specialist healthcare provision for GVHD in the United Kingdom. Methods We conducted a primary explorative qualitative study of the experience of QOL issues and multidisciplinary care in patients with chronic GVHD following allogeneic stem cell transplantation. Eight patients were identified using convenience sampling from specialist BMT outpatient clinics. Following consent, patients were interviewed individually via telephone. Transcripts of interviews were analyzed using an inductive thematic approach. Results Mean participant age was 61-years-old (range 45–68), with a mean time post-transplant of 3 years at time of interview (range 3 months–15 years). Five key QOL themes were identified: (1) ‘Restricted as to what I can do’; (2) Troubling symptoms—‘you can sort of get GVHD anywhere’; (3) Confusion/uncertainty over GVHD symptoms—‘Is this the GVHD?’; (4) Unpredictable course and uncertainty about the future; and (5) Adapting to the sick role. In addition, four themes related to experience of service provision were identified: (1) personal care and close relationship with BMT nurses; (2) efficiency versus long waits—‘On the case straight away’; (3) information provision—‘went into it with a bit of a rosy view’; and (4) the role of support groups. Conclusions These qualitative data reflect the heterogeneity of experiences of the GVHD patient population, reflecting the need for a flexible and nuanced approach to patient care with emphasis on comprehensive information provision. We have identified the key role that BMT specialist nurses within the multidisciplinary team play in supporting patients. We advocate future research should focus on ways to meet the complex needs of this patient group and ensure that the personal care and close relationships are not lost in service redesigns embracing remote consultations.

Development of a Multidimensional Measure to Examine Fear of Dementia

2018 ◽  
Vol 89 (2) ◽  
pp. 187-205 ◽  
Author(s):  
Kyle S. Page ◽  
Bert Hayslip ◽  
Dee Wadsworth ◽  
Philip A. Allen
Keyword(s):  
Quality Of Life ◽  
Older Adults ◽  
Family History ◽  
Health Behaviors ◽  
Factor Structure ◽  
Multidimensional Measure ◽  
Valid Instrument ◽  
History Of ◽  
Areas Of Concern

Persons with and without a family history of dementia report concerns for developing this syndrome; yet, less is known about the specific aspects of dementia that are feared. The Fear of Dementia (FOD) scale was created to assess these concerns. This study examined the psychometric properties of the FOD scale using a sample of middle-aged and older adults ( N = 734). We then explored the factor structure of the scale 2 years later using a smaller sample from the first study ( N = 226). Three factors emerged, highlighting several main areas of concern: Burden and Loss, Quality of Life, and Perceived Social and Cognitive Loss. Preliminary data suggest that the FOD scale is a reliable and valid instrument for assessing the multidimensional nature of the concern about developing dementia. Attention to what specifically is feared may help further our understanding of health behaviors, coping, and targeted supports.

Survival and quality of life in 23 patients with severe aplastic anemia treated with bone marrow transplantation (BMT)

1987 ◽  
Vol 54 (3) ◽  
pp. 137-146 ◽  
Author(s):  
W. Hinterberger ◽  
H. Gadner ◽  
P. H�cker ◽  
A. Hajek-Rosenmayr ◽  
W. Graninger ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Aplastic Anemia ◽  
Marrow Transplantation ◽  
Severe Aplastic Anemia
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