Browsing by Author "Kozic, Dusko (6602538657)"

The early presentation of autonomic dysfunctions at the disease onset has been considered the mandatory clinical feature in adult-onset autosomal dominant leukodystrophy, which is a rarely recognised leukodystrophy caused by duplication of the lamin B1 gene. We report the first family with adult-onset autosomal dominant leukodystrophy and lamin B1 duplication, without the distinguishing early-appearing autonomic dysfunctions. Subjects from three consecutive generations of a multi-generational Serbian family affected by adult-onset autosomal dominant leukodystrophy underwent clinical, biochemical, neurophysiological, neuroradiological, and genetic studies. The patients atypically exhibited late autonomic dysfunctions commencing at the disease end-stages in some. Genetic findings of lamin B1 duplication verified adult-onset autosomal dominant leukodystrophy, which was supported also by neuroimaging studies. Exclusively, proton magnetic spectroscopy of the brain revealed a possibility of neuro-axonal damage in the white matter lesions, while magnetic resonance imaging of the spinal cord excluded spinal myelin affection as a required finding in this leukodystrophy. The detection of lamin B1 duplication, even when autonomic dysfunctions do not precede the other symptoms of the disease, proves for the first time that lamin B1-duplicated adult-onset autosomal dominant leukodystrophy may have a phenotypic variant with delayed autonomic dysfunctions. Prior to this report, such a phenotype had been speculated to represent an entity different from lamin B1-duplicated leukodystrophy. Hereby we confirm the underlying role of lamin B1 duplication, regardless of the autonomic malfunction onset in this disorder. It is the only report on adult-onset autosomal dominant leukodystrophy from Southeastern Europe. © 2013 Springer-Verlag Berlin Heidelberg.

The early presentation of autonomic dysfunctions at the disease onset has been considered the mandatory clinical feature in adult-onset autosomal dominant leukodystrophy, which is a rarely recognised leukodystrophy caused by duplication of the lamin B1 gene. We report the first family with adult-onset autosomal dominant leukodystrophy and lamin B1 duplication, without the distinguishing early-appearing autonomic dysfunctions. Subjects from three consecutive generations of a multi-generational Serbian family affected by adult-onset autosomal dominant leukodystrophy underwent clinical, biochemical, neurophysiological, neuroradiological, and genetic studies. The patients atypically exhibited late autonomic dysfunctions commencing at the disease end-stages in some. Genetic findings of lamin B1 duplication verified adult-onset autosomal dominant leukodystrophy, which was supported also by neuroimaging studies. Exclusively, proton magnetic spectroscopy of the brain revealed a possibility of neuro-axonal damage in the white matter lesions, while magnetic resonance imaging of the spinal cord excluded spinal myelin affection as a required finding in this leukodystrophy. The detection of lamin B1 duplication, even when autonomic dysfunctions do not precede the other symptoms of the disease, proves for the first time that lamin B1-duplicated adult-onset autosomal dominant leukodystrophy may have a phenotypic variant with delayed autonomic dysfunctions. Prior to this report, such a phenotype had been speculated to represent an entity different from lamin B1-duplicated leukodystrophy. Hereby we confirm the underlying role of lamin B1 duplication, regardless of the autonomic malfunction onset in this disorder. It is the only report on adult-onset autosomal dominant leukodystrophy from Southeastern Europe. © 2013 Springer-Verlag Berlin Heidelberg.

Objective: This study was conducted in order to test the hypothesis that proton MR spectroscopic (1H MRS) profile of Leber's hereditary optic neuropathy (LHON) mutation carriers group (including both symptomatic and asymptomatic) differs from group of healthy individuals and to determine metabolite or ratio that contributes most to differentiation. Patients and methods: We performed single voxel 1H MRS in normal appearing white matter of eighteen LHON mtDNA mutation carriers bearing one of three LHON mtDNA point mutations and in fifty control subjects. Results: ANOVA showed significant difference for absolute concentration of creatine (Cr) (p < 0.01) and N-acetylaspartate to creatine ratio (NAAVCr) (p < 0.01). Discriminant analysis revealed that decreased absolute Cr followed by decreased absolute NAA concentration have the most significant contribution in discriminating LHON mutation carriers from healthy controls. Conclusion: Abnormal metabolic profile in normal appearing white matter on MR imaging seems to be significantly present in LHON mutation carriers.

Background: Metastatic brain tumors are typically located at the cerebral hemispheres or the cerebellum and most frequently originate from primary breast or lung tumors. Metastatic lesions are usually associated with blood–brain barrier disruption, solid or ring-like contrast enhancement, and perilesional vasogenic edema on brain imaging. Even in cases where metastases are predominantly cystic, enhancement of the minor solid component can be detected. In contrast, non-enhancing secondary brain tumors were only reported in a patient after antiangiogenic treatment with bevacizumab. Case report: We report a case of a 54-year-old male who presented with left-sided weakness and multiple seizures. Brain magnetic resonance imaging revealed a T2-weighted heterogeneous solid tumor in the right frontoparietal parasagittal region, with no apparent enhancement on T1-weighted post-contrast images and no evident perilesional edema. Further MRS analysis revealed markedly increased choline and lipid peaks. The patient underwent craniotomy for tumor removal. Histopathology revealed findings consistent with metastatic non-microcellular neuroendocrine lung cancer. positron emission tomography/computed tomography (PET/CT) revealed a stellate lesion within the right upper lung lobe, compatible with primary lung cancer. Conclusion: Non-enhancing brain metastatic tumors are rarely reported in the literature, usually following antiangiogenic treatment. Here, we report the first ever case of a non-enhancing metastatic brain tumor with no prior history of antiangiogenic treatment, with particular emphasis on the importance of MRS analysis in atypical brain lesions. Copyright © 2022 Kozic, Lasica, Grujicic, Raicevic, Prvulovic Bunovic, Nosek and Boban.

Background: Metastatic brain tumors are typically located at the cerebral hemispheres or the cerebellum and most frequently originate from primary breast or lung tumors. Metastatic lesions are usually associated with blood–brain barrier disruption, solid or ring-like contrast enhancement, and perilesional vasogenic edema on brain imaging. Even in cases where metastases are predominantly cystic, enhancement of the minor solid component can be detected. In contrast, non-enhancing secondary brain tumors were only reported in a patient after antiangiogenic treatment with bevacizumab. Case report: We report a case of a 54-year-old male who presented with left-sided weakness and multiple seizures. Brain magnetic resonance imaging revealed a T2-weighted heterogeneous solid tumor in the right frontoparietal parasagittal region, with no apparent enhancement on T1-weighted post-contrast images and no evident perilesional edema. Further MRS analysis revealed markedly increased choline and lipid peaks. The patient underwent craniotomy for tumor removal. Histopathology revealed findings consistent with metastatic non-microcellular neuroendocrine lung cancer. positron emission tomography/computed tomography (PET/CT) revealed a stellate lesion within the right upper lung lobe, compatible with primary lung cancer. Conclusion: Non-enhancing brain metastatic tumors are rarely reported in the literature, usually following antiangiogenic treatment. Here, we report the first ever case of a non-enhancing metastatic brain tumor with no prior history of antiangiogenic treatment, with particular emphasis on the importance of MRS analysis in atypical brain lesions. Copyright © 2022 Kozic, Lasica, Grujicic, Raicevic, Prvulovic Bunovic, Nosek and Boban.

We report the clinical course, brain magnetic resonance imaging (MRI), and proton magnetic resonance spectroscopy findings in a boy with childhood cerebral X-linked adrenoleukodystrophy whose neurological disease keeps progressing more than 5 years after conventional hematopoietic cell transplantation with full donor-derived engraftment accomplishment. The described clinical and radiological findings follow all phases of this childhood cerebral X-linked adrenoleukodystrophy: from the clinically asymptomatic pretransplant stage to the present day. This is the first patient not only from Serbia but from the entire area of Southeastern Europe who underwent hematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy. The presented disease course and the posttransplant outcome in the only case of transplanted adrenoleukodystrophy from Serbia enhances the overwhelming appeal for better X-linked adrenoleukodystrophy screening, earlier disease detection, and contributes to the well-known anticipation of the refined hematopoietic cell transplantation eligibility criteria in future adrenoleukodystrophy treatment. © 2010, The Author(s). All rights reserved.

To explore microstructural integrity of hippocampus in vascular dementia (VD) using DTI. Twenty-five individuals with VD, without magnetic resonance imaging (MRI) evidence of gray matter pathology, and 25 matched healthy control (HC) individuals underwent a 3T MRI protocol including T2, FLAIR, and PD in the axial plane, 3D whole-brain T1-weighted with an isotropic resolution of 1 mm, and DTI acquired using 64 diffusion sensitizing directions, b value of 1,500 s/mm2, 65 axial slices, isotropic resolution of 1.8 mm. Images were processed to obtain indices of microstructural variations of bilateral hippocampi. Mean diffusivity (MD) in the hippocampus of patients with VD was significantly increased (p < 0.05) bilaterally with respect to that of the group of HC examinees. In VD group left hippocampal MD (10−6× mm2/s) was 833.4 ± 92.8; in HC group left MD was 699.8 ± 56. In VD group, right hippocampal MD was 859.1 ± 69.8; in HC group right MD was 730.4 ± 40.2. No group differences were found in hippocampal FA. DTI shows microstructural hippocampal damage in VD in patients with normal appearing gray matter structures on conventional MRI, indicating the need for further research on the link between VD and AD. © 2014, Belgian Neurological Society.

Background: Pol III-related leukodystrophies, including 4H leukodystrophy, are recently recognized disorders that comprise hypomyelination and various neurologic and non-neurologic clinical manifestations. We report the unique neurologic presentation of the micturition dysfunction in Pol III-related leukodystrophy and describe the novel endocrine abnormalities in this entity. Case presentation: A 32-year-old Caucasian female exhibited chronic urinary incontinence that commenced at the age of 7 years and remained the unexplained symptom more than two decades before the onset of progressive neurologic decline. A transient growth failure and absent sexual development with hypoprolactinemia appeared in the meanwhile. Neurologic, endocrine, neuroradiologic, and genetic evaluation performed only in the patient's thirties, confirmed the diagnosis of 4H leukodystrophy as the only cause of the micturition disturbance. Conclusion: The report shows for the first time that an unexplained chronic bladder dysfunction should be evaluated also as a possible 4H leukodystrophy, thus alerting to the unexpected neurologic and endocrine features in 4H leukodystrophy. © 2015 Potic et al.

Background: An increasing number of international students has been enrolling in medical studies in the English language offered by the countries of Eastern Europe. Development of practical skills is likely more challenging when students learn in the English language, while their patients are non-English speaking persons. Aims: To evaluate self-perception of practical skills of medical students in the English language program. Methods: From December 2016 to December 2017, a total of 52 students from the Studies in English program of two universities in Serbia were included in the study. Data were obtained by a previously validated questionnaire. Results: Participants were most confident when measuring blood pressure, checking the arterial pulse, and taking history. Students were the least confident when placing urinary catheters, performing rectal examinations, and suturing wounds. Male students reported higher confidence in “Major interventions” compared to females (p = 0.004), and no difference between male and female students was found in the total skill score of “knowledge of Serbian language” (p = 0.339). Adjusted analysis showed that a higher grade point average remains associated with a more confident perception of one’s practical skills (B 26.48, 95% confidence interval 8.98–43.98). Rasch analysis showed that because the scores were distributed around the mean value between “not confident at all” and “quite confident,” the majority of students had similar perceptions of their skills. Conclusion: Active supervision by teaching staff is also recommended in an attempt to rectify the lack of confidence at performing a range of clinical procedures which is present among international students. © 2018, Royal Academy of Medicine in Ireland.

Depression is frequently associated with Parkinson disease (PD) but neural basis is still unclear. In previous studies white matter changes present as signal hyperintesities on T2-wighted MRI studies (WMHs) commonly observed in older adults have been associated with depressive symptomatology. In this study we investigated whether WMHs were associated with depression in PD patients with disease onset above the age of 60. Thirty-four patients, with (PD-D) and 25 without depression (PD-nD), and 30 healthy age- and sex-matched controls were analyzed using the Scheltens visual rating scale. Cerebrovascular risk factors were similar across groups. Comparing controls and PD patients as a group there were no differences in WMHs in any examined regions. However, PD-D group had more common frontal WMHs although WMHs score didn't rich statistical significance. The same came true for total deep white matter changes comparing those two groups. In addition PD-D group had a significantly higher score for periventricular regions WMHs comparing with both PD-nD group and controls.PD-D group had significantly higher WMHs scores BG regions when compared to controls. The only significance in multivariate analyses was shown for periventricular WMHs total score explaining the 39% of the variance in the depressive score. Our findings suggest that WMH in the deep white matter may contribute to depression in PD. © 2012 Elsevier B.V.

Depression is frequently associated with Parkinson disease (PD) but neural basis is still unclear. In previous studies white matter changes present as signal hyperintesities on T2-wighted MRI studies (WMHs) commonly observed in older adults have been associated with depressive symptomatology. In this study we investigated whether WMHs were associated with depression in PD patients with disease onset above the age of 60. Thirty-four patients, with (PD-D) and 25 without depression (PD-nD), and 30 healthy age- and sex-matched controls were analyzed using the Scheltens visual rating scale. Cerebrovascular risk factors were similar across groups. Comparing controls and PD patients as a group there were no differences in WMHs in any examined regions. However, PD-D group had more common frontal WMHs although WMHs score didn't rich statistical significance. The same came true for total deep white matter changes comparing those two groups. In addition PD-D group had a significantly higher score for periventricular regions WMHs comparing with both PD-nD group and controls.PD-D group had significantly higher WMHs scores BG regions when compared to controls. The only significance in multivariate analyses was shown for periventricular WMHs total score explaining the 39% of the variance in the depressive score. Our findings suggest that WMH in the deep white matter may contribute to depression in PD. © 2012 Elsevier B.V.