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In this investigation of congenital muscular torticollis, 311 infants treated consecutively for congenital torticollis over an 8-year period (1995-2003) at the Pediatric Neurology Clinic of Istanbul Medical Faculty, Istanbul University, Turkey were reviewed retrospectively. The clinical presentation, associated abnormalities, treatment, and outcomes of the overall group and of subgroups divided according to an ultrasonography-based classification were evaluated. All patients were evaluated using a standard approach: cervical ultrasonography was performed, and the patients were divided into two subgroups. Each group was scanned for other anomalies, and outcomes were compared. The mean age at diagnosis was 2.3 months; patients included in this study were 138 males and 173 females. Two clinical subgroups, comprised of sternomastoid tumors 85% and postural torticollis 15%, were identified. Passive range of motion was the initial treatment recommended for all of the patients. Follow-up data were available for all 311 patients; 95% experienced total resolution and 5% experienced subtotal resolution. We conclude that the majority of children with congenital muscular torticollis experience total resolution of symptoms. The success rate of conservative treatment is primarily dependent on the patients' age at the initiation of exercises and ultrasonographic findings.

Background: Membranous interventricular septal aneurysm has been reported to accompany atrioventricular (AV) conduction defects. If it is accompanied by AV block, patients generally become symptomatic before the age of 40., Case Report: A 65-year-old male presented with presyncope and extreme fatigue for one week. Resting ECG showed a 2: 1 AV block. Transthoracic echocardiography revealed an interventricular septal aneurysm without any shunt. After making the diagnosis of type 2 second-degree AV block, a DDDR pacemaker was implanted., Conclusions: We presented a 65-year-old male with new-onset presyncope. A diagnosis of septal aneurysm and associated AV block was made and a pacemaker was implanted.

A Chiari malformation Type I may remain asymptomatic until the patient has reached adulthood and acute presentation of symptoms occurs. In several clinical and experimental studies it has been shown that essential hypertension is associated with vascular compression of the brainstem, particularly of the rostral ventrolateral medulla oblongata. Nevertheless, two cases of Chiari malformation and neurogenic arterial hypertension have been reported. In this article the authors describe a patient with Chiari malformation Type I and neurogenic arterial hypertension. A simple suboccipital decompression not only provided neurological improvement, but also led to resolution of the hypertension. In cases of Chiari malformation and concomitant neurogenic arterial hypertension, careful preoperative clinical and neuroimaging assessments may reveal the cause of the arterial hypertension. Resolution of neurogenic arterial hypertension may be expected even in a case of simple suboccipital decompression.

In an attempt to develop a brief treatment for disaster survivors, the present study examined the effectiveness of a single session of modified behavioral treatment in earthquake-related posttraumatic stress disorder. Fifty-nine earthquake survivors in Turkey were randomized into either single-session modified behavioral treatment (SSBT) designed to enhance sense of control over earthquake-related fears or waiting list control condition (WL). The WL group received SSBT after a second baseline assessment. Follow-ups were at weeks 6, 12, 24, and at 1-2 years posttreatment. Significant treatment effects were found on all measures at posttreatment. The improvement rate was 49% at week 6; it rose to 80% by week 12, 85% by week 24, and 83% by the 1-2-year follow-up. Brief behavioral treatment has promise as a cost-effective intervention for disaster survivors.

In this study the aim was to evaluate the intrathecal sICAM-1 production in multiple sclerosis (MS) patients during relapse and remission. In addition to this, we assessed whether there is a correlation between intrathecal sICAM-1 production and other disease activity markers such as IgG index and gadolinium enhancement in magnetic resonance imaging (MRI). Twenty four relapsing-remitting MS patients were included in the study. Serum and cerebrospinal fluid (CSF) samples were obtained both during relapse and remission. The soluble form of ICAM (sICAM) was measured by the ELISA method in serum and CSF. Cranial MRI with triple dose gadolinium injection was performed for each patient both during relapse and remission. Serum levels of sICAM-1 (245.23 +/- 92.88 ng/ml) were higher during relapse than those in remission (219.90 +/- 110.94 ng/ml), but the difference was not statistically significant. In relapse periods CSF levels of sICAM-1 (1.304 +/- 0.92 ng/ml) were higher than those in remission (1.06 +/- 0.86 ng/ml), but this was not significant. However, during relapse periods patients had significantly higher sICAM-1 index values (1.76 +/- 0.60) than those found during remission periods (1.01 +/- 0.44) (p < 0.05). The IgG index values were higher in relapse periods than in remission (0.88 +/- 0.37 vs. 0.67 +/- 0.28) (p < 0.005). On T1 weighted images following triple dose Gd injection, at least two or more enhancing lesions were present in 22/24 of the patients (91%) in relapse and 4/24 of the patients (19%) in remission. There was strong correlation both between the sICAM-1 index and Gd enhancement (r =0 .72 p < 0.05) and sICAM-1 index and IgG index in relapse (r = 0.69 p < 0.05). In conclusion, there is association between high sICAM-1 and IgG indices, as well as between high sICAM-1 index and Gd enhancing MRI lesions in relapsing MS patients.

The aim of this study was to investigate whether excess of vitamin B6 leads to ultrastructural changes in cerebral cortex of forty-eight healthy albino rats which were included in the study. Saline solution was injected to to the control groups (CG-10, n = 12 for 10 days; CG-15, n = 12 for 15 days; CG-20, n=12 for 20 days). The three experimental groups (EG-10, n = 12; EG-15, n = 12; EG-20, n = 12) were treated with 5 mg/kg vitamin B6 daily for 10 days (EG-10), 15 days (EG-15) and 20 days (EG-20). Brain tissues were prepared by glutaraldehyde-osmium tetroxide double fixation for ultrastructural analysis. No significant changes were observed in the control groups. The ultrastructural analysis revealed that the numbers of damaged mitochondria, lipofuscin granules and vacuoles were significantly higher in all the experimental groups than in the control groups (p < 0.05). However, synaptic density was significantly decreased in the experimental groups as compared to the control groups (p < 0.05). The results suggest that the excess of vitamin B6 intake causes damage to the cerebral cortex due to cellular intoxication and decreased synaptic density. Thus, careful attention should be paid to the time and dose of vitamin B6 recommended for patients who are supplemented with this vitamin.

Unsatisfactory results obtained with medical therapy and dual-chamber pacing for prevention of recurrent neurocardiogenic syncope necessitated the development of new treatment modalities. Tilt-training, a novel treatment for recurrent neurocardiogenic syncope based on exercise sessions with prolonged upright posture (either on a tilt-table or standing on foot against a wall), was shown to be effective in preventing the recurrence of neurocardiogenic syncope. The purpose of this study was to demonstrate the long-term beneficial effects of a transient tilt training program lasting 2 months. Thirty-two patients with recurrent neurocardiogenic syncope (mean number of syncope episodes in the last 6 months was 3.4 +/- 2.3) constituted the study group. All of the patients were tilt test positive. The patients were taught a tilt training program with 2 phases (in-hospital training with repeated tilt procedures until 3 consecutive negative results were obtained and home exercises with standing against a wall) and home exercises lasted a maximum of 2 months. After this training program, the patients received no treatment and were followed for the recurrence of syncope. At the end of the follow-up period (376 +/- 45 days), 81% of the patients were free of recurrent syncope. This study revealed that similar successful results can also be obtained with a transient tilt training program as a first line treatment strategy. Less interference with the daily activities of the patients is the major advantage of this strategy. The ease of performance and high effectiveness rate will most likely result in more frequent utilization of this treatment modality.

The aim of this study was to evaluate whether VEP is sensitive to optic neuritis (ON) when compared with triple dose orbital MRI. Twenty-four relapsing-remitting MS (RRMS) patients were included in the study. Group I (n = 10) patients with acute ON, Group II (n = 8): patients presenting with a current relapse who had the history of ON in the previous relapses. Group III (n = 6): patients presenting with a current relapse but with no history of ON. Neuro-ophtalmological evaluation. VEP investigation and orbital MRI with triple dose (0.3 mmol/kg) gadolinium (Gd) were carried out for all. VEP was found to be 70% sensitive and 12.5% specific to the acute ON, whereas orbital MRI with triple dose Gd was 70% sensitive and 100% specific. In chronic ON, the sensitivity of orbital MRI is 0%, whereas the VEP is still 75% sensitive to chronic optic nerve involvement and can distinguish the pathology 100% specifically. In conclusion, orbital MRI with triple dose Gd is not more sensitive than VEP in determining the acute optic nerve pathologies but it is a 100% specific method. The results suggest that VEP is superior to the orbital MRI in determining the chronic optic nerve involvement.

In the present study, we present the ultrastructural and immunohistochemical properties of the sural nerves of two patients, one of whom was diagnosed as having multiple sclerosis with involvement of the peripheral nervous system (PNS), and the other as having hereditary motor sensory neuropathy type-I with involvement of the central nervous system (CNS). Expression of several extracellular matrix (ECM) proteins (fibronectin, laminin, and collagen type-IV), intermediate filaments (vimentin) and S-100 protein (marker for the axon-Schwann cell interface) was investigated by means of immunohistochemical methods. In addition, the tissue samples were evaluated ultrastructurally. Immunohistochemical staining revealed increased expression of the ECM molecules mentioned above in relation with the sural nerves of the patients. We hypothesize that this enhanced expression is due to Schwann cell-axon interactions. Vimentin expression was different in Schwann cells and S-100 immunostaining was decreased near the Schwann cell-axon interface. Myelin fragmentation, axon vacuolization, onion bulbs, tomoculous formation, axonal degeneration were found to occur. These results suggest that there is active ECM reorganization in the sural nerve of these patients, and some ultrastructural changes are similar in the damaged axonal organization and in Schwann cells although the changes are not completely the same in the two patients. In conclusion, our study demonstrates that there is an association between the demyelinization process in the CNS and the PNS even though they are affected by different mechanisms.

This study compared P-wave duration and dispersion (PD) in patients with short-term (48 hours) atrial fibrillation (AF) after cardioversion. We studied 96 consecutive patients with short-term (group A; n:51, age: 61 +/- 11 years) and long-term AF (group B; n:45, age: 64 +/- 10 years). P-wave measurements were calculated from 12-lead electrocardiogram. There was no difference related to clinical characteristics. Left atrial dimension was significantly higher in group B (P =.003). P maximum (124 +/- 12 vs. 113 +/- 11 ms, P =.001) and PD (57 +/- 8 vs. 49 +/- 9 ms, P =.001) were also significantly longer in group B compared with group A, but P minimum did not. In univariate analysis, PD were related to AF duration (P =.002) and left atrial size (P =.02). This relation remained in multivariate analysis (P =.01, P =.02, respectively). P maximum >112 ms and PD >47 ms had accuracy values of 74% and 83% respectively for separating group B. Our results suggest that P wave duration and dispersion is prolonged in patients with long-term AF compared to short-term AF.

Objective: Left ventricular ejection fraction (EF) and left ventricular (LV) end-systolic diameter measurements are the most widely accepted and utilized methods to demonstrate LV dysfunction in patients with mitral regurgitation (MR). However, these parameters still have many drawbacks in predicting early LV dysfunction. This study investigates the clinical usefulness of tissue Doppler echocardiography technique in detecting early disturbance of myocardial contractility in asymptomatic patients with chronic, severe MR and normal LV ejection fraction values., Methods and Results: Regional systolic peak velocities of mitral annular motion during the ejection phase of systole (SW2) were obtained at the mitral annuli of the ventricular septal, lateral, anteroseptal, posterior, anterior and inferior wall sites in the long axis in 31 asymptomatic patients with severe MR (with a regurgitant volume of more than 50 ml) and with EFs more than 60%. The patients were grouped according to their dP/dt values (more or less than 1300 mmHg/s) estimated non-invasively by using continuous Doppler wave of MR SW2 measurements of Group I were higher than Group II in all of the analyzed segments. The difference was statistically significant for all of the segments. SW2 values of the whole study group was moderately correlated with dP/dt measurements in all of the analyzed segments other than the interventricular septum., Conclusion: SW2 measurements in the long axis, which are considered to be relatively independent from afterload conditions may be helpful in early detection (while EF is still in normal range) of LV systolic dysfunction during the follow-up of patients with chronic MR.

Nitric oxide (NO) molecules have one of the most important roles in the pathogenesis of multiple sclerosis (MS). It has been stated that a continuous and high concentration of NO metabolites in CSF and in the serum of MS patients in relapse may cause toxic damage to myelin and oligodendroglia. The aim of this study was to investigate whether NO is a marker of disease activity and is correlated with other disease activity markers such as active lesions on brain magnetic resonance imaging (MRI) and increased immunoglobulin G (IgG) index. Cerebrospinal fluid (CSF) and peripheral serum (PS) samples were taken from patients with definite MS (n = 24) during relapse and remission and from control subjects (n = 18). The Griess reaction was used to measure the NO metabolites, nitrite and nitrate in CSF and PS. Cranial MRI was carried out with triple dose (0,3 mmol/kg) gadolinium and the IgG index was determined. Nitrite and nitrate concentrations (NNCs) of CSF were 11.16 +/- 8.60 micromol/ml in relapse and 6.72 +/- 3.50 micromol/ml in remission, whereas in PS they were 12.89 +/- 7.62 micromol/ml during relapse and 12.35 +/- 6.62 micromol/ml during remission. In control subjects NNCs in CSF and PS were 7.42 +/- 2.81 micromol/ml and 4.37 +/- 1.63 micromol/ml respectively. NNCs in CSF during relapse period were significantly higher than those of both remission phase and control subjects (p = 0.000). Although serum NNCs did not differ in relapse and remission, they were still higher than normal controls. Validity analysis revealed that NNC measurement in CSF was 71 % specific and 66 % sensitive to disease activity. The most important result was the significant correlation of increased NNCs with the existence of active lesion in cranial MRI and an increase in IgG index (p < 0.05).In conclusion, these results add background data to assist in further outlining the possible role of NO in the pathogenesis of MS. Together with the other markers it may be used as an activity marker in relapses of MS.

Objective: The incidence of paroxysmal and persistent atrial fibrillation (AF) recurrence is high and unpredictable. In this study, a novel noninvasive method that was thought to reflect the interatrial conduction time was investigated to predict AF recurrence. This method was on the basis of the measurement of time interval from initiation of the electrocardiographic P wave to the start of left atrial (LA) appendage (LAA) ejection flow (P-LAA)., Methods and Results: Forty-five consecutive patients (age, 61 +/- 11 years; 20 male) with newly diagnosed AF (mean duration, 132 hours; range: 6 hours-3 months) who converted to in sinus rhythm spontaneously or with cardioversion were studied prospectively. Transthoracic and transesophageal echocardiography were performed to measure LA size, mechanical functions, LAA ejection velocity, and P-LAA. Transesophageal echocardiography was performed for the measurement of P-LAA 1 to 2 days after conversion to in sinus rhythm. The patients were followed up for a period of 163 +/- 72 days for the recurrence of AF. AF recurred in 17 (38%) patients after a mean time of 81 +/- 67 days. P-LAA was significantly higher in patients with AF recurrence (123 +/- 36 vs 92 +/- 24 milliseconds, P =.0047) and multiple regression analysis indicated that P-LAA was an independent predictor of AF recurrence. Multiple regression analysis revealed no significant differences in LA size parameters, or in clinical and LA mechanical function parameters recorded after restoration of in sinus rhythm between patients with and without AF recurrence., Conclusion: P-LAA may be considered to be an independent predictor of recurrent AF.

Purpose: The purpose of this study was to analyze the results of malleostapedotomy and to compare them with those of a conventional incus stapedotomy in a series of 82 consecutive surgical revisions in otosclerotic patients., Materials and Methods: 82 consecutive revision stapes surgery cases over 5 years were evaluated. The preoperative and postoperative audiometric data of 80 (97.5%) of the patients were obtained., Results: 71 of the patients underwent a functional revision procedure as malleostapedotomy (56, 79%) or as incus stapedotomy (15, 21%). The most common cause of failure of primary surgery was a displaced or malfunctioning prosthesis (86.2%). Pathologic changes of the oval window were found in 80% of the cases. Problems of the incus were identified in 80% and abnormality of the malleus in 48.6% of the cases. The functional success rate of malleostapedotomy (closure within 10 dB) was found to be higher than that of traditional incus stapedotomy (p < 0.05). Overclosure was seen in 12 patients (17%) and a significant sensorineural hearing loss in 2 patients (3%). There were no dead ears in this series. The postoperative hearing results after first revision surgery were better than those after multiple surgical procedures (p < 0.05)., Conclusions: Malleostapedotomy yields better functional hearing results than incus stapedotomy in revision surgery for otosclerosis. The detection of many malleus fixations was the result of the systematic exposure of the anterior malleal process and ligament through an endaural approach with superior canaloplasty.

Congenital erythropoietic porphyria (Gunther's disease, GD) is a rare autosomal recessive disease. It results from the deficiency of uroporphyrinogen III synthase, the fourth enzyme on the metabolic pathway of heme synthesis. GD leads to severe scarring of the face and hands as a result of photosensitivity and fragility of the skin due to uroporphyrin I and coproporphyrin I accumulation. It also causes erythrocyte fragility leading to haemolytic anaemia. The other clinical features include hirsutism, red discolouration of teeth, finger-nails and urine and stunted growth. The outcome is poor, and the disfiguring nature of GD may partly explain the legend of the werewolf. No curative treatment was known until 1991, when the first case of BMT in GD was reported. The clinical and biological outcome after transplantation was encouraging, with an important regression of the symptoms of the disease, but the child died of CMV-infection 11 months after BMT. We report the second case of GD treated successfully by stem cell transplantation using umbilical cord blood from an HLA-identical brother in a 4-year-old girl suffering from severe GD. Our patient is very well 10 months after transplantation. We confirm that stem cell transplantation is curative for GD.