Publications by authors named "A H Akgulle"
Objective: Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.
View Article and Find Full Text PDFArticle Synopsis
- Duchenne muscular dystrophy (DMD) is a common muscle disease that requires regular checks of respiratory muscle function, so this study focused on the relationship between various respiratory pressure measurements and lung function tests in DMD patients.
- The research included 44 DMD patients, with findings showing significant decreases in lung function when lying down, and notably lower respiratory pressure measurements in those with low body mass index (BMI).
- The study suggests that to properly evaluate respiratory strength, both standing and lying down lung function tests should be used together and stresses the importance of monitoring nutrition for maintaining respiratory health in these patients.