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Respiratory system affects in mucopolysaccharidosis (MPS) disease. Respiratory system symptoms are seen in almost every MPS patients and respiratory failure is one of the most common causes of death in this population. The aim of the study was to evaluate respiratory muscle strength and endurance, cough effectiveness and functional capacity in MPS patients and to defined the factors that affected the respiratory problem in this.
This study was participated MPS patients. Patients' pulmonary function test, functional capacity, respiratory muscle strength and endurance, peak cough flow was assessed and recorded.
Pulmonary function test was assessed with spirometry, functional capacity was evaluated with 3-minute step test and six minute walk test (MWT). Respiratory muscle strength was evaluated mouth pressure measurement (MIP- maximal inspiratory pressure and MEP- maximal expiratory pressure) and Sniff nasal inspiratory pressure (SNIP). Respiratory muscle endurance was assessed Powerbreathe. And cough effectiveness was evaluated peak cough flow.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| functional capacity | Diagnostic Test | Six minute walk test used assessment of functional capacity. |
|
| Measure | Description | Time Frame |
|---|---|---|
| functional capacity | Six minute walk test: Distance walked in six minute was recorded | 15 minutes |
| 3 minute step test | number of completed step in 3 minute was recorded | 5 minutes |
| Respiratory muscle strength assessment | Respiratory muscle strength was evaluated by measuring maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP) and sniff nasal inspiratory pressure(SNIP). Also dynamic inspiratory muscle strength was evaluated Powerbreathe K5 device. | 15 minutes |
| Respiratory muscle endurance | Pressure time unit: A constant load test was used to evaluate respiratory muscle endurance. Using a PowerBreathe device (HaB International Ltd., Southam, UK), the participants were asked to breathe maintaining a constant threshold (60% of MIP) until task failure, and the test duration was recorded. Results were obtained by multiplying the set pressure by the test duration | 10 minutes |
| Pulmonary functions | FVC (Forced vital capacity) assessment via spirometry | 15 minutes |
| Pulmonary functions | FEV 1(forced expiratory volume in first second) assessment via spirometry | 15 minutes |
| Pulmonary functions | PEF (peak expiratory flow) assessment via spirometry |
| Measure | Description | Time Frame |
|---|---|---|
| heart rate | difference pre and post test heart beat number | 6 minutes |
| oxygen saturation | difference pre and post test percentage of oxygen saturation |
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Inclusion Criteria:
Exclusion Criteria:
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People who diagnosed Mucopolysaccharidoses disease in Hacettepe University were recruited the study.
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| Name | Affiliation | Role |
|---|---|---|
| Deniz Dogru- Ersoz, Professor | Hacettepe University | Study Director |
| Naciye Vardar- Yagli, PhD | Hacettepe University | Study Chair |
| Dilber Ademhan- Tural, MD | Hacettepe University | Study Chair |
| Nural Kiper, Professor | Hacettepe University | Study Chair |
| Ugur Ozcelik, Professor | Hacettepe University | Study Chair |
| Ebru Yalcin, Professor | Hacettepe University | Study Chair |
| Deniz Inal-Ince, Professor | Hacettepe University | Study Chair |
| Melda Saglam, PhD | Hacettepe University | Study Chair |
| Serap Sivri, Professor | Hacettepe University | Study Chair |
| Aysegul Tokatlı, Professor | Hacettepe University |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hacettepe University | Ankara | Turkey (Türkiye) |
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| ID | Term |
|---|---|
| D009083 | Mucopolysaccharidoses |
| ID | Term |
|---|---|
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| ID | Term |
|---|---|
| D005652 | Functional Residual Capacity |
| ID | Term |
|---|---|
| D014109 | Total Lung Capacity |
| D008176 | Lung Volume Measurements |
| D012129 | Respiratory Function Tests |
| D003948 | Diagnostic Techniques, Respiratory System |
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| 15 minutes |
| MVV (Maximal ventilatory assesssment) | Maximize ventilation by inhaling and exhaling as quickly and deeply as possible for 15 s via spirometry | 5 minutes |
| cough effectiveness | cough effectiveness assessment was evaluated peak cough flow meter. | 5 minutes |
| 6 minutes |
| Study Chair |
| D016464 | Lysosomal Storage Diseases |
| D017520 | Mucinoses |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D012143 | Respiratory Physiological Phenomena |
| D002943 | Circulatory and Respiratory Physiological Phenomena |