Person: İŞAK, BARIŞ
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İŞAK
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BARIŞ
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Publication Metadata only Madras motor neuron disease in Turkey(INFORMA HEALTHCARE, 2009) İŞAK, BARIŞ; Isak, Baris; Uluc, Kayihan; Tanridag, Tulin; Ozsahin, Selda; Dengler, Reinhard; Us, Onder; Petri, SusanneWe present a 19-year-old female patient complaining of hoarseness and eyelid drooping. The neurological examination and laboratory investigations including genetic, radiological and electrophysiological evaluations were consistent with a juvenile-onset, predominantly bulbar, motor neuron disease with sensorineural hearing loss. The syndrome fulfilled the diagnostic criteria of Madras Motor Neuron Disease (MMND). Very few cases with MMND have been reported to date, and the majority are from south-eastern Asia. This is the first case reported from Turkey and indicates that the disease is not only regional but may also occur on the basis of rare de novo mutations.Publication Metadata only Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings(ELSEVIER SCIENCE BV, 2008) İŞAK, BARIŞ; Uluc, Kayihan; Baskan, Ozdil; Yildirim, Kadriye Agan; Ozsahin, Selda; Koseoglu, Mesrure; Isak, Baris; Scheper, G. C.; Gunal, Dilek Ince; van der Knaap, M. S.Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a recently described disorder with autosomal recessive mode of inheritance. Lately, mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase, have been found as the underlying defect. We report a 19-year-old male patient with cerebellar, pyramidal and dorsal column dysfunctions and specific magnetic resonance imaging (MRI) and characteristic magnetic resonance spectroscopy (MRS) abnormalities. The patient was compound-heterozygous for two mutations in DARS2. MRI showed selective involvement of cerebral and cerebellar white matter and superior and inferior cerebellar peduncles, without contrast enhancement. The U-fibers were spared. The sensory and the pyramidal tracts were affected over their entire length. Involvement of the intraparenchymal trajectories of the trigeminal nerves and mesencephalic trigeminal tracts was demonstrated. In the spinal cord, signal abnormalities were identified in the dorsal columns and the lateral corticospinal tracts. Proton-MRS of the frontal and cerebellar white matter showed elevated lactate, reduced N-acetylaspartate, increased myoinositol and mildly elevated choline. In LBSL, distinct MRI findings should lead to the diagnosis, which can be confirmed by the analysis of the disease gene DARS2. (c) 2008 Elsevier B.V. All rights reserved.Publication Metadata only Evaluation of peripheral and autonomic neuropathy among patients with newly diagnosed impaired glucose tolerance(WILEY, 2008) İŞAK, BARIŞ; Isak, Baris; Oflazoglu, Buket; Tanridag, Tulin; Yitmen, Irem; Us, OnderBackground We have aimed to investigate the presence of peripheral and autonomic neuropathy in individuals who had been diagnosed with impaired glucose tolerance (IGT) on the basis of an oral glucose tolerance test, by comparing with age-matched healthy subjects with an oral glucose tolerance test (OGTT) in normoglycernic ranges. Material and methods Conventional nerve conduction studies, heart rate variation variability, heart rate response to deep breathing, heart rate response blood pressure response to standing up quickly, hand to valsalva maneuvre, grip test and sympathetic skin response tests were used to evaluate the IGT and the control subjects. Results No obvious statistical difference indicating peripheral neuropathy and/or cardiac autonomic neuropathy was detected between patient group and controls. Amplitudes of sympathetic skin response of two limbs (right upper and lower extremities) were lower in the IGT patient group when compared to healthy controls (p < 0.05) indicating the presence of sudomotor autonomic neuropathy. Conclusion Complaints and neurological examinations of patients with IGT were thought to be consistent with small-fiber neuropathy in the early phase of glucose intolerance. Not detecting any neuropathic findings in conventional electroneurography should be attributed to insufficient time allowed for settling down of large-fiber neuropathy. Obtaining no response in some of the patients in addition to general decrease in the amplitudes of sympathetic skin responses indicates that sudomotor fibers tend to be affected earlier in autonomic neuropathy in the group with IGT when compared with healthy controls. Newly diagnosed IGT patients take receive priority in primary protection since the time for settling down of cardiac autonomic neuropathy was short. Copyright (c) 2008 John Wiley & Sons, Ltd.Publication Metadata only Medial plantar and dorsal sural nerve conduction studies increase the sensitivity in the detection of neuropathy in diabetic patients(ELSEVIER IRELAND LTD, 2008) İŞAK, BARIŞ; Uluc, Kayihan; Isak, Baris; Borucu, Deniz; Temucin, Cagri Mesut; Cetinkaya, Yilmaz; Koytak, Pinar Kahraman; Tanridag, Tulin; Us, Onderobjective: Clinical utility of nerve conduction studies (NCS) of the medial plantar and dorsal sural nerves in the early detection of polyneuropathy have already been shown separately. However, at present, there is no data about the combined assessment of these two nerves in distal sensory neuropathy. In the present study, we aimed to evaluate the medial plantar and dorsal sural NCS in a group of diabetic patients with distal sensory neuropathy (DSN) and in healthy controls. Methods: Thirty healthy and 30 diabetic adult patients were included. In all subjects, peripheral motor and sensory NCS were performed bilaterally with surface electrodes on the lower limbs including medial plantar and dorsal sural nerves. In addition, motor and sensory nerves were studied unilaterally on the upper limb. Results: In all patients, nerve action potential (NAP) amplitudes of sural and superficial peroneal nerves were within normal ranges, but in the patient group mean value was significantly lower than in the controls. Among clinically defined 30 DSN patients, medial plantar NAP amplitude was abnormal in 18 (60%) and dorsal sural nerve amplitude was abnormal in 13 (40%) of the patients bilaterally. Additionally, the onset NCV of the dorsal sural nerve was significantly slower in patients than controls (P = 0.038). Evaluation of both of these nerves increased the sensitivity up to 70% in the detection of neuropathy. Conclusions: Bilateral NCS assessment of both of the medial plantar and dorsal sural nerves together increases the rate of diagnosis of diabetic distal sensory neuropathy compared to assessment of either of these nerves. Significance: Assessment of medial plantar in addition to dorsal sural NCS together increases the sensitivity in the detection of neuropathy and allows earlier diagnosis, especially when routine NCS are normal. (c) 2008 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.