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| Name | Class |
|---|---|
| Biruni University | OTHER |
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Lipid Storage Diseases (LSD) is a group of metabolic diseases that are manifested by exercise intolerance or muscle weakness, sometimes accompanied by systemic findings, which develop in some stages of muscle contraction due to necessary lipid transfer or destruction pathways. Exercise intolerance in LSD can limit not only physical activity but also daily activities. In the literature, no study evaluated the activities of daily living in patients with LSD. The aim of this study was to investigate the effect of exercise capacity and daily living activities on the clinical features of LSD patients.
Pulmonary functions are affected negatively in Lipid Storage Diseases (LSD). It was shown that respiratory muscle strength and peak cough flow decreased in these cases. Other respiratory system problems can be listed as; diaphragmatic dysfunction, hypoxemia, and hypercapnia. Routine evaluation of respiratory function in LSD is recommended. A limited number of studies have shown that exercise tolerance is limited by the blockage of fat oxidation on the basis of muscle weakness and fatigue in LSD. Although the assessment of exercise capacity is also an important indicator of heart-lung capacity monitoring, exercise capacity is not routinely measured in patients with LSD. Exercise intolerance can limit not only physical activity but also daily activities. In the literature, the investigator's did not find any study evaluating the activities of daily living in patients with LSD. The aim of this study was to investigate the effect of exercise capacity and daily living activities on the clinical features of LSD patients.
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| Measure | Description | Time Frame |
|---|---|---|
| 6 minutes walking test | Exercise capacity will be evaluated with 6 minutes walking test | 1 day |
| Measure | Description | Time Frame |
|---|---|---|
| Activity limitation (ACTIVLIM) questionnaire | Activities of daily living will be evaluated Activlim questionnaire. The questionnaire is consists of 22 questions. Minimum score is 0 and total score is 88. Higher scores indicate worse conditions. | 1 day |
| Rivermead mobility index |
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Inclusion Criteria:
Exclusion Criteria:
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25 patients who were diagnosed with Lipid Storage Disease at Istanbul University Istanbul Medical Faculty Neurology and Chest Diseases Departments will be invited to the study. The study will be continued in Istanbul University, Istanbul Faculty of Medicine, Department of Chest Diseases.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Goksen Kuran Aslan, Assoc.Prof | Contact | +90 (212) 414 15 28 | 40167 | goksenkuran@yahoo.com |
| Name | Affiliation | Role |
|---|---|---|
| Goksen Kuran Aslan, Assoc.Prof. | Istanbul University - Cerrahpasa | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Istanbul University | Istanbul | Turkey (Türkiye) |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 29497949 | Result | Bingol Z, Tekce HD, Sagcan G, Serdaroglu P, Kiyan E. Pulmonary functions and sleep-related breathing disorders in lipid storage disease. Sleep Breath. 2018 Dec;22(4):1137-1142. doi: 10.1007/s11325-018-1647-1. Epub 2018 Mar 1. |
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| ID | Term |
|---|---|
| D008064 | Lipidoses |
| ID | Term |
|---|---|
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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Mobility will be evaluated with Rivermead mobility index. The questionnaire consists of 14 questions. Minimum score is 0, maximum score is 15. Higher scores indicate better conditions. |
| 1 day |
| Hand held dinamometer | Hand held dinamometer will be used for the measurement of upper and lower muscle strength. | 1 day |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |