Osteo Arthritis Knee

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Alptekin Physical Therapy and Rehabilitation Clinic

Reliability and Validity of Turkish Version of Knee Injury and Osteoarthritis Outcome Score-12

Scale; It consists of three parts: pain (4 items), function (4 items) and knee-specific quality of life (4 items). KOOS-12; in pain sub-item; In the sub-item of walking on a flat ground, going up and down stairs, sitting-reaching, function and daily life; There are patient-specific questions in the sub-item of quality of life, sitting up, standing, getting in and out of the car, turning the affected knee. The total scores obtained from the items in the KOOS-12 scale are calculated and the average of the total score is taken from the three sub-dimensions. If any of the three sub-item scores are missing, the average score cannot be calculated.

It is a questionnaire designed by Roos et al. From the Likert 3.0 version of the WOMAC osteoarthritis index to evaluate the pain, functional status, daily life activity and quality of life of patients with knee osteoarthritis (Roos EM. et al. 1998). Scale; consists of five subgroups and 42 questions: pain, string-related quality of life, daily life activities, sports and leisure activities. Individuals score the questions between 0-4 according to the 5-point Likert scale, based on the symptoms felt in the knee, taking into account the past week. While 100 points indicate that there are no symptoms in the scale, 0 points indicate that there are severe symptoms. The subscale score is calculated by dividing the average scores of each sub-dimension separately into 4. The Turkish validity and reliability study of the scale was conducted. (Sabırlı F. et al. 2007). It takes 10 minutes to apply the scale (Roos EM. et al. 2003, Paker N. et al. 2007).

It is a scale that is used to evaluate the overall quality of life consisting of eight sub-scales and 36 questions and allows the individual to evaluate himself. Scale; physical function, physical role, emotional role, pain, vitality, general health and mental health sub-dimensions. Each subscale is scored between 0-100 and "0" indicates the lowest and "100" shows the best quality of life. The questionnaire has Turkish validity and reliability (Kocyigit H. et al. 1999).

Leyla Ataş Balcı

Assist. Prof

Bahçeşehir University

Patients with Hypophosphatasia disease or high-grade suspicion for Hypophosphatasia disease

For the development of the new biomarkers using the technique of Mass-spectrometry 7, 5 ml EDTA blood and a dry blood spot filter card are taken. To proof the correct di- agnosis of Hypophosphatasia in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Hypophosphatasia disease will be done. The analyses will be done at the: Centogene AG Am Strande 7 18055 Rostock Germany

Defective Mineralization

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Centogene AG

NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist

Lady Ridgeway Hospital for Children

Biomarker for Hypophosphatasia Disease (BioHypophos)

Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Next-Generation Sequencing (NGS) of the ALPL gene will be performed. The mutation will be confirmed by Sanger sequencing.

The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

chondrocalcinosis/asthenia

Reliability and Validity of Turkish Version of Knee Injury and Osteoarthritis Outcome Score-12

Biomarker for Hypophosphatasia Disease (BioHypophos)

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