Laboratuvardan Kliniğe Transplantasyon Pratiği

Transplantasyon; Temel Tıbbi Bilimler, Moleküler Tıp, Genetik ve İmmünolojiden klinik uygulamalardan destek alan multidisipliner bir tıp dalıdır. Temel bilimlerdeki başarılı çalışmaların kliniğe uygulanması, klinikte karşılaşılan sorunların da, oluşturulan deneysel hayvan modellerinde irdelenmesi, elde edilen bilgilerin klinik uygulamalara aktarılması; diğer deyişle tecrübelerin “Translational” özellikli olması günümüz transplantasyon çalışmalarında bir gerekliliktir. İmmün sistemin bileşenlerinin ve reaksiyonlarının iyi bilinmesi, hücreler arası ilişkilerde greftin reddi ya da kabul edilmesinin şartlarını doğru anlamak ve uygun laboratuvar yöntemleri ile klinik durumun aydınlatılması transplantasyonda stratejik önemdedir. Bu nedenle, klinik transplantasyon çalışmaları yapanlar temel bilimler bilgileri ile de donanımlı olmalıdırlar. Multidisipliner bir dal olma bilinci ile yapılan klinik transplantasyon çalışmalarında başarı yakalanmaktadır. Laboratuvardan Kliniğe Transplantasyon kitabımızda tüm yönleri ile transplantasyonun organizmaya etkileri ve bunların klinik sonuçlarını, çalışmalarımızın ışığında sunmayı ve tartışmayı hedefledik. Editör: Prof.Dr. Mesut İzzet TİTİZ Yardımcı Editör: Doç.Dr. Pınar AT

Transcranial Magnetic Stimulation in Idiopathic Parkinson’s Disease

OBJECTIVE: Activating the motor cortex via Transcranial Magnetic Stimulation (TMS) gives information about the central motor neuronal pathways. It has been used to assess the functional integrity of motor neurons and descending pathways in different neurological disorders including Idiopathic Parkinson’s Disease. There are different conclusions from different studies regarding TMS in IPD patients, but the most common finding is an increase in MEP amplitude. The aim of this study was to evaluate the functional integrity of corticomotor neuronal pathways in IPD patients, using TMS. METHODS: We studied 30 IPD patients (21 male, 9 female) and age and sex matched 30 healty controls with TMS. The MEP latency and amplitude was recorded and compared between the patients and controls. The effect of, age of onset, disease duration and disability degree was evaluated. RESULTS: We found no difference between the two groups for MEP latency but there was an increase in MEP ampltiude in patient group. This finding was correlated with disease duration and disability scales, and there was no change with dopaminergic treatment. CONCLUSION: PD is not only a disease of extrapyramidal system and the central motor neuronal pathways are affected early in the disease cours

Dropped Head and Parkinsonism

Scientific BACKGROUND: Dropped head sing is characterized by severe neck flexion. It results from neck extensor weakness or increased tone of the flexor muscles. This sign is usually reported in neuromuscular diseases such as amyotrophic lateral sclerosis, myasthenia gravis, polymyositis and myopathy. Among extrapyramidal disorders, dropped head sign is not very common. CASE: Only one case with early dropped head and parkinsonism have been reported in our movement disorders department between 1998 and 2006 among our 330 parkinsonism patients. CONCLUSIONS: Existence of dropped head with extrapyramidal disorders makes one think of MSA. This sign has been reported in Parkinson’s disease recently. Its physiopathology, clinical features, and incidence have not been clarified yet. In our case, which is the first case among 330 patients, with levodopa treatment parkinsonism showed remarkable improvements whereas dropped head sign didn’t show any improvement

Clinical, Neuroradiological and Electroencephalographic Findings of Epileptic Patients with Malformation of Cortical Development

Objectives:We aimed to review the clinical, neuroradiological and electroencephalographic (EEG) findings of patients with epilepsy and malformation of cortical development (MCD).Methods:A retrospective analysis of the medical records of epilepsy outpatients was done. Patients with epilepsy, MCD, and ≥18 years of age were included and classified according to the Barkovich classification (BC).Results:The files of 2027 patients were assessed, and 17 out of 1395 epilepsy patients who were followed-up were found to have MCD. The mean age was 26.5 years. Ten patients were male and 7 were female. The mean time of seizure onset was 13 years. In terms of seizure type, 11 patients had focal, 10 had generalized tonic-clonic, 1 had absence, 1 had tonic-atonic, and 1 had myoclonic. MRI showed 7 patients with cortical dysplasia, 4 with heterotopia, 2 with periventricular nodular heterotopia, 2 with schiezencephaly, 2 with lissencephaly, 1 with agyria, 1 with pachygyria, 1 with macrogyria, 1 with polymicrogyria, and 1 with tuberous sclerosis. EEG revealed focal epileptiform discharges in 5 patients, high-frequency activity in 2, generalized epileptiform discharge in 1, diffuse disorganized background activity in 1, and focal disorganized background activity in 1. EEG was normal in 7 patients. Four of them were on monotherapy and 13 on polytherapy.Conclusion:The MCDs classified in group 1 and 2 according to BC are more frequent. Treatment-resistant or good responsive cases can be seen and seizures can begin at any age. We concluded that the prevalence of MCD is 1.21%. The spectrum of epilepsy seen is extensive and the most common type of MCD is focal cortical dysplasia

CADASIL and A Family

OBJECTIVE: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a systemic vasculopathy that causes various clinical pictures as recurrent ischemic attacks, migrainous headache, pseudo bulbar palsy, epileptic seizures and dementia. Mutations of notch3 gene on chromosome 19 are responsible for the disease. METHODS: The aim of this study is to draw attention to the family history and neuroradiological investigations of a genetically diagnosed CADASIL case. RESULTS: A forty-seven-years-old woman who presented with left hemiparesis was investigated for the cause of stroke as well as her family history. Her mother was reported to have chronic headache. Then inappropriate crying and laughing attacks, behavioral disturbances, urinary incontinency had contributed and she had died at the age of 51 following sudden loss of consciousness. Her father had had four stroke attacks after 45 and before he died at the age of 73 he was unresponsive for the last 10 years. First sibling, 58 years-old female had a history of three stroke attacks and reported forgetfulness. Second sibling, a female, suffered from headache and had died at the age of 37 succeeding two epileptic seizures. Third sibling, 53 years-old female was said to be living bedridden for the last 5 years. Fourth sibling was 51 years-old male and had had a stroke attack at the age of 38. Fifth sibling was 48 years-old female whose speech disorder started 10 years ago. Laughing and crying attacks, incontinency, childish behavior and forgetfulness were also added. Sixth sibling was our patient. Seventh sibling was 45 years-old, male and had no complaints. First, fourth, sixth and seventh siblings were evaluated in systematic, neurological, neuropsychological and neuroradiological perspectives. CONCLUSION: In addition to family history, hyperintensities in temporal polar region and external capsule on flair and T2-weighted MRI supported the diagnosis of CADASIL in our case. The diagnosis was confirmed by detecting R133C mutation in notch3 gene, 4th exo

Assessment of Atrial Conduction Times in Patients with Newly Diagnosed Parkinson’s Disease

Background. An increased risk of ischemic stroke has been reported in patients with Parkinson’s disease (PD). Atrial fibrillation (AF) is strongly associated with ischemic stroke. Prolonged atrial electromechanical delay (EMD) is an independent predictor for the development of AF. Aims. The aim of the present study was to evaluate the atrial conduction parameters in patients with PD and to assess their relation with the severity of PD. Study design. We prospectively enrolled 51 consecutive patients with newly diagnosed PD and 31 age- and sex-matched non-PD subjects. Methods. To assess atrial electromechanical coupling (PA), the time intervals from the onset of p wave on ECG to the late diastolic wave at the septal (PAs) and lateral (PAl) mitral annulus and lateral tricuspid annulus (PAt) were measured on Tissue Doppler Echocardiography (TDE). The difference between PAs-PAl, PAs-PAt, and PAl-PAt were defined as left intra-atrial, right intra-atrial, and interatrial EMD, respectively. P-wave dispersion (PWD) was calculated from the 12-lead ECG. Results. PWD, PAs, PAl, and PAt durations were significantly prolonged in the PD group (all p<0.001). Interatrial, right, and left intra-atrial EMD were also significantly longer in PD patients (p<0.001, p<0.001 and p=0.002, resp.). There were significant positive correlations between disease severity (UPDRS score) and PWD (r=0.34, p=0.041), left intra-atrial (r=0.39, p=0.005), and interatrial EMD (r=0.35, p=0.012). By multivariate analysis, PWD (OR: 1.13, 95% CI: 1.02–1.25; p=0.017), LA volume index (OR: 1.19, 95% CI: 1.02–1.37; p=0.021), left intra-atrial (OR: 1.12, 95% CI: 1.01–1.24; p=0.041), and interatrial EMD (OR: 1.08, 95% CI: 1.01–1.16; p=0.026) were found as independent predictors of PD. Conclusion. Atrial conduction times were longer and correlated with the severity of disease in PD patients. Prolonged inter- and intra-atrial-EMD intervals were also found as independent correlates of PD. These findings may suggest an increased predisposition to atrial fibrillation in PD