Differential brain region-specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey-white matter variation.

INTRODUCTION AND OBJECTIVES: Rett Syndrome (RTT) is a neurodevelopmental disorder caused by Methyl CpG Binding Protein 2 (MECP2) gene mutations. Previous studies of MeCP2 in the human brain showed variable and inconsistent mosaic-pattern immunolabelling, which has been interpreted as a reflection of activation-state variability. We aimed to study post mortem MeCP2 and BDNF (MeCP2 target) degradation and brain region-specific detection in relation to RTT pathophysiology. METHODS: We investigated MeCP2 and BDNF stabilities in non-RTT human brains by immunohistochemical labelling and compared them in three brain regions of RTT and controls. RESULTS: In surgically excised samples of human hippocampus and cerebellum, MeCP2 was universally detected. There was no significantly obvious difference between males and females. However, post mortem delay in autopsy samples had substantial influence on MeCP2 detection. Immunohistochemistry studies in RTT patients showed lower MeCP2 detection in glial cells of the white matter. Glial fibrillary acidic protein (GFAP) expression was also reduced in RTT brain samples without obvious change in myelin basic protein (MBP). Neurons did not show any noticeable decrease in MeCP2 detection. BDNF immunohistochemical detection showed an astroglial/endothelial pattern without noticeable difference between RTT and controls. CONCLUSIONS: Our findings indicate that MeCP2 protein is widely expressed in mature human brain cells at all ages. However, our data points towards a possible white matter abnormality in RTT and highlights the importance of studying human RTT brain tissues in parallel with research on animal and cell models of RTT.

Eight years of lung transplantation: experience of the National Research Institute of Tuberculosis and Lung Diseases.

BACKGROUND: Lung transplantation has evolved from an experimental procedure to a viable therapeutic option in many countries. In Iran, the first single-lung transplantation was performed in the year 2000, more than 3 decades after the first successful procedure in the world, and the first double-lung transplantation was performed in the year 2006. OBJECTIVE: To describe our 8-year experience in lung transplantation. PATIENTS AND METHODS: During 8 years, we performed 24 lung transplantation procedures. Underlying lung diseases were pulmonary fibrosis in 16 patients (66.6%); chronic obstructive pulmonary disease in 2 (8.3%); bronchiectasis in 5, including 2 patients with cystic fibrosis (20.8%), and alveolar microlithiasis in 1 (4.16%). Data for all patients were collected and analyzed. Procedures were carried out using standardized methods. The induction suppression regimen consisted of cyclosporine and methylprednisolone. Maintenance immunosuppression drugs were cyclosporine and mycophenolate mofetil, and tapering dosage of prednisolone. Patients were followed up with physical examinations, 3 times a week, as well as and cycle ergometry 3 times a week and spirometry and laboratory tests once a week and chest radiography per needed for up to 3 months posttransplantation. RESULTS: The longest survival time was 7.2 years, in a 60-year-old patient with idiopathic pulmonary fibrosis. Fourteen patients died, 8 as a result of hemodynamic instability and/or hemorrhage, 1 as a result of bone and fat emboli, 3 after cessation of drug and 2 of them after infection. CONCLUSION: Although lung transplantation is a complex procedure it can be performed in developing countries such as Iran.

Hemomediastinum and bilateral hemothorax with extensive angiomatosis of anterior mediastinum.

Angiomatosis is a rare, benign but clinically extensive and serious vascular lesion of soft tissue. Hereby, we report a case of diffuse angiomatosis of mediastinum, presenting with hemomediastinum and bilateral massive hemothorax in a 19-year old boy. On medical imaging, mediastinal widening along with enhanced small vessels and capillaries were detected. On operation, hemorrhagic sponge-like vascular tissue patches were seen extensively in pericardium, pleura, lymph node and thymus as well. The lesion was debulked. The pathologic evaluation revealed characteristic features of soft tissue angiomatosis involving thymus, lymph node, pleura, pericardium and its fibrofatty tissue. Diffuse angiomatosis should be considered for differential diagnosis of vascular lesions of anterior mediastinum.