Light And Scanning Electron Microscopic Examination Of Late Changes In Hair With Hereditary Trichodysplasia (Marie Unna Hypotrichosis)

Objective: Our aim was to investigate the microscopic structural alteration in hair with hereditary trichodysplasia. This article presents the results of light and scanning electron microscopy (SEM) examination of cases having hereditary trichodysplasia. Methods: The biopsy specimens were obtained from 2 girls of ages 3 and 5-years, Department of Pediatrics, Faculty of Medicine, Hacettepe University in 2001. A large number of hair specimens were obtained from these 2 cases having hereditary trichodysplasia. Routine light microscopic and SEM procedure was performed on the tissue specimen, and then they were examined by light microscopy and SEM. Results: Hair specimens taken from both patients had great similarities. Our results reveal that the atypical looking hair were flattened, twisted and partly scattered at the end. Moreover, these hairs had sheath structures with abnormal proliferation and these structures were damaged, the cuticles had fractures and were degenerative. Conclusion: There is only a small number of SEM studies in literature reporting the ultrastructural changes of hereditary trichodysplasia. Scanning electron microscopy is a 3 dimensional examination technique revealing easily comparable images and it is indispensable for diagnosis in various tissues which permit considerable magnification. As it is used in the hereditary trichodysplasia syndrome its routine usage in many dermatologic and hair diseases will result in valuable contributions to scientific literature.Wo

hair with hereditary trichodysplasia (Marie Unna hypotrichosis)

Objective: Our aim was to investigate the microscopic structural alteration in hair with hereditary trichodysplasia. This article presents the results of light and scanning electron microscopy (SEM) examination of cases having hereditary trichodysplasia.Methods: The biopsy specimens were obtained from 2 girls of ages 3 and 5-years, Department of Pediatrics, Faculty of Medicine, Hacettepe University in 2001. A large number of hair specimens were obtained from these 2 cases having hereditary trichodysplasia. Routine light microscopic and SEM procedure was performed on the tissue specimen, and then they were examined by light microscopy and SEM.Results: Hair specimens taken from both patients had great similarities. Our results reveal that the atypical looking hair were flattened, twisted and partly scattered at the end. Moreover, these hairs had sheath structures with abnormal proliferation and these structures were damaged, the cuticles had fractures and were degenerative.Conclusion: There is only a small number of SEM studies in literature reporting the ultrastructural changes of hereditary trichodysplasia. Scanning electron microscopy is a 3 dimensional examination technique revealing easily comparable images and it is indispensable for diagnosis in various tissues which permit considerable magnification. As it is used in the hereditary trichodysplasia syndrome its routine usage in many dermatologic and hair diseases will result in valuable contributions to scientific literature.C1 Hacettepe Univ, Fac Med, Dept Anat, TR-06100 Ankara, Turkey.Pamukkale Univ, Fac Med, Dept Anat, Denizli, Turkey

hair with hereditary trichodysplasia (Marie Unna hypotrichosis)

Objective: Our aim was to investigate the microscopic structural alteration in hair with hereditary trichodysplasia. This article presents the results of light and scanning electron microscopy (SEM) examination of cases having hereditary trichodysplasia.Methods: The biopsy specimens were obtained from 2 girls of ages 3 and 5-years, Department of Pediatrics, Faculty of Medicine, Hacettepe University in 2001. A large number of hair specimens were obtained from these 2 cases having hereditary trichodysplasia. Routine light microscopic and SEM procedure was performed on the tissue specimen, and then they were examined by light microscopy and SEM.Results: Hair specimens taken from both patients had great similarities. Our results reveal that the atypical looking hair were flattened, twisted and partly scattered at the end. Moreover, these hairs had sheath structures with abnormal proliferation and these structures were damaged, the cuticles had fractures and were degenerative.Conclusion: There is only a small number of SEM studies in literature reporting the ultrastructural changes of hereditary trichodysplasia. Scanning electron microscopy is a 3 dimensional examination technique revealing easily comparable images and it is indispensable for diagnosis in various tissues which permit considerable magnification. As it is used in the hereditary trichodysplasia syndrome its routine usage in many dermatologic and hair diseases will result in valuable contributions to scientific literature

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

BACKGROUND: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population. OBJECTIVE: To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients. METHODS: In this cross-sectional study we analysed clinical data from 5345 genetically confirmed DMD patients from 31 countries held within the TREAT-NMD global DMD database. For analysis patients were categorised by corticosteroid background and further stratified by age. RESULTS: Loss of ambulation in non-steroid treated patients was 10 years and in corticosteroid treated patients 13 years old (p = 0.0001). Corticosteroid treated patients were less likely to need scoliosis surgery (p < 0.001) or ventilatory support (p < 0.001) and there was a mild cardioprotective effect of corticosteroids in the patient population aged 20 years and older (p = 0.0035). Patients with a single deletion of exon 45 showed an increased survival in contrast to other single exon deletions. CONCLUSIONS: This study provides data on clinical outcomes of DMD across many healthcare settings and including a sizeable cohort of older patients. Our data confirm the benefits of corticosteroid treatment on ambulation, need for scoliosis surgery, ventilation and, to a lesser extent, cardiomyopathy. This study underlines the importance of data collection via patient registries and the critical role of multi-centre collaboration in the rare disease field