Browsing by Author "Anlar, Banu"

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Clinical Findings and Mutation Analysis of NF1 Patients in Turkey
(2018) Terzi, Yunus Kasim; Oguzkan-Balci, Sibel; Anlar, Banu; Varan, Ali; Ersoy-Evanse, Sibel; Sharafif, Parisa; Ayter, Sukriye; https://orcid.org/0000-0001-5612-9696; B-4372-2018
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that is caused by mutations of the NF1 gene. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant tumors. The mutation rate of NF1 is one of the highest known for human disorders: approximately 50% of all affected individuals are sporadic cases and carry de novo mutations Therefore mutation analysis of NF1 may be an important tool in early diagnosis and genetic counseling. This is the first large NF1 study performed in Turkey. The data collected in this study enabled us to overview the genetic and clinical aspects of NF1 molecular diagnostics. The patients, who were clinically diagnosed for NF1, were included in this study. These patients were clinically evaluated, and subgroup of them genotyped or DNA sequenced for mutations in NF1, either to confirm the clinical diagnosis or to identify pathogenic mutations. The mutation detection rate was 52%, based on analysis of only genomic DNA. We observed that frameshift mutations were the largest proportion of the identified mutations (38.5%). The frequency of microdeletions was 26.9% and the splice site and nonsense mutations were 11.5% in this cohort. Turkish NF1 patients have similar NF1 germline mutations compared to other populations. Considering that some of these detected mutations belonged to the patients who did not fulfill the NIH criteria for NF1 diagnosis, mutation analysis of NF1 is an important tool in early diagnosis and genetic counseling.
Clinical Presentation of Anti-N-Methyl-D-Aspartate Receptor and Anti-Voltage-Gated Potassium Channel Complex Antibodies in Children: A Series Of 24 Cases
(2018) Konuskan, Bahadir; Yildirim, Mirac; Topaloglu, Haluk; Erol, Ilknur; Oztoprak, Ulkuhan; Tan, Huseyin; Gocmen, Rahsan; Anlar, Banu; https://orcid.org/0000-0002-3530-0463; 29153996; AAK-4825-2021
Objective: The symptomatology and paraclinical findings of antibody-mediated encephalitis, a relatively novel disorder, are still being characterized in adults and children. A high index of suspicion is needed in order to identify these cases among children presenting with various neurological symptoms. The aim of this study is to examine the clinical, demographic and laboratory findings and outcome of children with anti-NMDAR and anti-VGKC encephalitis for any typical or distinctive features. Methods: Cases diagnosed with anti-N-Methyl o-aspartate receptor (NMDAR) and anti voltage gated potassium channel (VGKC) antibody-mediated encephalopathy in four major child neurology centers are described. Results: In four years, 16 children with NMDAR and 8 children with VGKC antibody associated disease were identified in the participating centers. The most frequent initial manifestation consisted of generalized seizures and cognitive symptoms in both groups. Movement abnormalities were frequent in anti-NMDAR patients and autonomic symptoms, in anti-VGKC patients. Cerebrospinal fluid (CSF) protein, cell count and IgG index were normal in 9/15 anti-NMDAR and 5/8 anti-VGKC patients tested. EEG and MRI findings were usually nonspecific and non-contributory. The rate and time of recovery was not related to age, sex, acute or subacute onset, antibody type, MRI, EEG or CSF results. Treatment within 3 months of onset was associated with normal neurological outcome. Conclusions: Our results suggest anti-NMDAR and VGKC encephalopathies mostly present with non-focal neurological symptoms longer than 3 weeks. In contrast with adult cases, routine CSF testing, MRI and EEG did not contribute to the diagnosis in this series. (C) 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes
(2022) Yilmaz, Unsal; Gucuyener, Kivilcim; Yavuz, Merve; Oncel, Ibrahim; Canpolat, Mehmet; Saltik, Sema; Unver, Olcay; Kurt, Aysegul Nese Citak; Tosun, Ayse; Yilmaz, Sanem; Ozgor, Bilge; Erol, Ilknur; Oztoprak, Ulkuhan; Elitez, Duygu Aykol; Direk, Meltem Cobanogullari; Bodur, Muhittin; Teber, Serap; Anlar, Banu; 36137476
Background: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. Aim: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. Method: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Turkiye. Clinical and paraclinical features were compared between patients with dis-ease onset before 12 years (earlier onset) and >= 12 years (later onset) as well as between our current (2015-2021) and previous (< 2015) cohorts. Results: A total of 634 children (456 girls) were enrolled, 89 (14%) were of earlier onset. The earlier-onset group had lower female/male ratio, more frequent initial diagnosis of acute disseminated encephalomyelitis (ADEM), more frequent brainstem symptoms, longer interval between the first two attacks, less frequent spinal cord involvement on magnetic resonance imaging (MRI), and lower prevalence of cerebrospinal fluid (CSF)-restricted oligoclonal bands (OCBs). The earlier-onset group was less likely to respond to initial disease-modifying treatments. Compared to our previous cohort, the current series had fewer patients with onset < 12 years, initial presentation with ADEM-like features, brainstem or cerebellar symptoms, seizures, and spinal lesions on MRI. The female/male ratio, the frequency of sensorial symptoms, and CSF-restricted OCBs were higher than reported in our previous cohort. Conclusion: Pediatric MS starting before 12 years was less common than reported previously, likely due to exclusion of patients with antibody-mediated diseases. The results underline the importance of antibody testing and indicate pediatric MS may be a more homogeneous disorder and more similar to adult-onset MS than previously thought.
Screening preschool children for fine motor skills: environmental influence
(2016) Comuk-Balci, Nilay; Bayoglu, Birgül; Tekindal, Agah; Kerem-Gunel, Mintaze; Anlar, Banu; 27134406
[Purpose] The aim of this study was to investigate the influence of gender and family factors on performance in the fine motor domain of the Denver II developmental screening test. [Subjects and Methods] Data were obtained from 2038 healthy children, 999 boys (49%) and 1039 girls (51%) in four age groups: 0-24 months (57%), 25-40 months (21.1%), 41-56 months (10.4%), and 57-82 months (11.5%). [Results] Female gender, higher maternal age, especially in children older than 24 months, and higher maternal education were associated with earlier accomplishment of fine motor items. Higher socioeconomic status was correlated with fine motor skills more noticeably at young ages. [Conclusion] The results of this study support the role of environmental factors in the interpretation of fine motor test results and point to target groups for intervention, such as infants in the low socioeconomic group and preschool children of less educated mothers. Studies in different populations may reveal particular patterns that affect child development.
Unfavorable Outcome of Pediatric Onset Multiple Sclerosis: Follow-Up in the Pediatric and Adult Neurology Departments of One Referral Center, in Turkey
(2016) Derle, Eda; Kurne, Asli Tuncer; Konuskan, Bahadir; Karabudak, Rana; Anlar, Banu; 0000-0001-6727-6229; 0000-0003-2122-1016; 27645334; HJH-2490-2023; I-9090-2013; AAI-8830-2021
Background:: The prevalence of MS starting under 18 years of age ranges between 2-10% of the total MS population. Objective:: We aimed to examine the clinical and long term follow-up data of pediatric-onset cases in our institutional MS database. Method:: We evaluated the clinical data from the MS database of the Departments of Neurology and Pediatric Neurology of Hacettepe University Hospital. Results:: The clinical features of 74 patients who had experienced the first attack before age 18 years comprised 3.9% of our MS population. Median age at onset was 15 (3, 5-17, IQR=3.63) years, and female: male ratio was 2.4. The most frequent symptom at onset was brainstemicerebellar dysfunction (32.4%). Seventy two patients (97.3%) initially had relapsing remitting course and in the follow-up, 17 (23%) of them developed secondary progressive (SP) course. The median interval to develop SPMS course was 10 (5-21, IQR=8) years. At the last visit, median disease duration was 6.67 (0.83-25, IQR=9.06) years, 41 (55.4%) of them had EDSS of >= 4. Conclusion:: These findings illustrate the profile of our pediatric MS patients: almost all are relapsing remitting initially; about one fourth become secondarily progressive in 10 years, and about half acquire disability EDSS >= 4 in mean 8 years. (C) 2016 Elsevier B.V. All rights reserved.
Voltage gated calcium channel antibody-related neurological diseases
(2015) Bekircan-Kurt, Can Ebru; Ciftci, Eda Derle; Kurne, Asli Tuncer; Anlar, Banu; 25789302
Voltage gated calcium channel (VGCC) antibodies are generally associated with Lambert-Eaton myasthenic syndrome. However the presence of this antibody has been associated with paraneoplastic as well as nonparaneoplastic cerebellar degeneration. Most patients with VGCC-antibody-positivity have small cell lung cancer (SCLC). Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease of the presynaptic part of the neuromuscular junction. Its classical clinical triad is proximal muscle weakness, areflexia and autonomic dysfunction. Fifty to sixty percent of LEMS patients have a neoplasia, usually SCLC. The co-occurrence of SCLC and LEMS causes more severe and progressive disease and shorter survival than non-paraneoplastic LEMS. Treatment includes 3,4 diaminopyridine for symptomatic purposes and immunotherapy with prednisolone, azathioprine or intravenous immunoglobulin in patients unresponsive to 3,4 diaminopyridine. Paraneoplastic cerebellar degeneration (PCD) is a syndrome characterized with severe, subacute pancerebellar dysfunction. Serum is positive for VGCC antibody in 41%-44% of patients, usually with the co-occurrence of SCLC. Clinical and electrophysiological features of LEMS are also present in 20%-40% of these patients. Unfortunately, PCD symptoms do not improve with immunotherapy. The role of VGCC antibody in the immunopathogenesis of LEMS is well known whereas its role in PCD is still unclear. All patients presenting with LEMS or PCD must be investigated for SCLC.