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Öğe Cardiac involvement in Myotonic Dystrophy Type 1(Pergamon-Elsevier Science Ltd, 2006) Yueceyar, Nur; Bicak, Nijer; Kayikcioglu, Meral; Ekmekci, Oezguel; Karasoy, HaticeÖğe A case with Myoshi myopathy and retinitis pigmentosa(Pergamon-Elsevier Science Ltd, 2006) Akdal, Gulden; Sengun, Ihsan; Karasoy, HaticeÖğe Chloroquine-induced myopathy in a patient with Primary Sjogren Syndrome(Pergamon-Elsevier Science Ltd, 2006) Yueceyar, Nur; Aydogdu, Ibrahim; Ay, Firat; Karasoy, HaticeÖğe Clinical and Histopathological Study of Patients With Mitochondrial Abnormalities(Journal Neurological Sciences, 2012) Ekmekci, Ozgul; Karasoy, Hatice; Yuceyar, NurObjective: Mitochondrial diseases are clinically heterogenous group of disorders with widely varying clinical features. Diagnosis can be difficult and requires synthesis of clinical, biochemical, histopathological and molecular data. These investigations may not be available in most medical centers. Muscle biopsy provides an important information to confirm a mitochondrial disease. Ragged red fibers and cytochrome oxidase negative fibers are the morphological hallmark of mitochondrial diseases. In this study, we aimed to analyze clinical features and histopathological findings of patients with mitochondrial abnormalities on muscle biopsy. Methods: We retrospectively evaluated demographic and neurologic features, presenting symptoms, additional systemic manifestations, syndromic features of patients with mitochondrial abnormalities on muscle biopsy, according to diagnostic criteria for mitochondrial cytopathies. Results: Among 936 muscle biopsy sample, 118 showed mitochondrial abnormalities. Eighty four patients were considered as primary mitochondrial disease based on clinical and histopathologic features. The diagnosis of 34 patients was nonmitochondrial diseases according to their clinical features and additional histopathologic findings. The most common syndrome was chronic progressive external ophtalmoplegia in 61 patients. Fifteen patients had isolated proximal myopathy and 4 patients had Kearns Sayre syndrome, 2 patients had SANDO, 1 patient had MNGIE, 1 patient had MLASA. Conclusion: Mitochondrial abnormalities occur in both mitochondrial diseases and many nonmitochondrial diseases. The majority of patients with primary mitochondrial disorders have ophtalmologic abnormalities or neuromuscular manifestations. The accurate diagnosis of mitochondrial diseases relies on a multidisciplinary approach and muscle biopsy is useful in both accurate diagnosis and differential diagnosis.Öğe A database for screening and registering late onset Pompe disease in Turkey(Pergamon-Elsevier Science Ltd, 2018) Gokyigit, Munevver Celik; Ekmekci, Hakan; Durmus, Hacer; Karll, Necdet; Koseoglu, Emel; Aysal, Fikret; Kotan, Dilcan; Ali, Asuman; Koytak, Pinar Kahraman; Karasoy, Hatice; Yaman, Aylin; Sengun, Ihsan Sukru; Sayin, Refah; Tiftikcioglu, Bedile Irem; Soysal, Aysun; Tutkavul, Kemal; Bayrak, Ayse Oytun; Kisabay, Aysin; Elci, Mehmet Ali; Yayla, Vildan; Yilmaz, Ibrahim Arda; Ozdamar, Sevim Erdem; Erdogan, Cagdas; Tasdemir, Nebahat; Oflazer, Piraye SerdarogluThe aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe. (C) 2017 Elsevier B.V. All rights reserved.Öğe The decision making levels of urine tetrasaccharide for diagnosisof Pompe disease(2019) Canbay, Erhan; Vural, Melisa; Uçar, Sema Kalkan; Sezer, Ebru; Yüceyar, Ayşe Nur; Karasoy, Hatice; Çoker, Mahmut…Öğe The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population(Walter De Gruyter Gmbh, 2020) Canbay, Erhan; Vural, Melisa; Ucar, Sema Kalkan; Sezer, Ebru Demirel; Karasoy, Hatice; Yuceyar, Ayse Nur; Sozmen, Eser YildirimBackground: Recently, urinary excretion of the tetrasaccharide 6-alpha-D-glucopyranosyl-maltotriose (Glc4) has been proposed as a marker for the diagnosis and monitoring of Pompe disease (PD). We aimed to determine the reference intervals and reliable decision-making levels of urine tetrasaccharide concentrations for the diagnosis of infantileand late-onset Pompe patients in the Turkish population. Methods: in this study, nine patients with PD (five of them with late-onset PD [LOPD]) and 226 healthy individuals (aged 0-64 years) were included. Urine Glc4 concentrations were determined using the ultra-high-performance liquid chromatography (UHPLC) tandem mass spectrometry (MS/MS) method. Results: Our data showed that the urine tetrasaccharide levels decreased with age in healthy individuals (p < 0.001, r = -0.256). It was higher especially during the first year of life compared to that in the elder subjects. the tetrasaccharide level of Pompe patients was higher compared to that of healthy controls of the same age: 99 +/- 68 mmol/mol creatinine for infantile onset vs. 4.0 +/- 3.0 mmol/mol creatinine for healthy controls of the same age group and 12.1 +/- 17.4 mmol/mol creatinine for late onset vs. 1.7 +/- 1.2 mmol/mol creatinine for healthy controls of the same age group. Conclusions: the results of this study showed that the reference intervals of tetrasaccharide in urine changed over time; therefore, it is critically important to define agebased decision levels for the diagnosis of LOPD.Öğe DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability(Elsevier Sci Ltd, 2013) Koroglu, Cigdem; Baysal, Leyla; Cetinkaya, Murat; Karasoy, Hatice; Tolun, AslihanFamilial parkinson's disease is both clinically and genetically heterogeneous. By mapping the disease locus with a lod score of 5.13 to a < 3.5 Mbp region at 1p31.3 in a consanguineous family and subsequent exome sequencing analysis, we identified homozygous truncating mutation p.Q734X in DNAJC6. Four members of the family were afflicted with juvenile parkinsonism that presented with mental retardation, pyramidal signs and epilepsy, as well as varying degrees of a progressive neurological disease. Recently a splicing mutation in the same gene was reported in two brothers with juvenile parkinsonism that was not L-Dopa responsive and not accompanied by pyramidal signs or mental retardation. Also, an 80-kb deletion that included DNAJC6 sequences was identified in a boy reported as having obesity, epilepsy and mental retardation but not any signs of parkinsonism. The phenotype of our study family resembles both of those families, which among themselves do not share any clinical features. Our findings further establish DNAJC6 as a juvenile parkinsonism gene, and expand the spectrums of the parkinsonism phenotype and DNAJC6 mutation. DNAJC6 encodes the neuronal co-chaperone auxilin. We found that its transcript is highly significantly more abundant in brain as compared to the non-neural tissues assayed. (C) 2012 Elsevier Ltd. All rights reserved.Öğe DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability(Elsevier Sci Ltd, 2013) Koroglu, Cigdem; Baysal, Leyla; Cetinkaya, Murat; Karasoy, Hatice; Tolun, AslihanFamilial parkinson's disease is both clinically and genetically heterogeneous. By mapping the disease locus with a lod score of 5.13 to a < 3.5 Mbp region at 1p31.3 in a consanguineous family and subsequent exome sequencing analysis, we identified homozygous truncating mutation p.Q734X in DNAJC6. Four members of the family were afflicted with juvenile parkinsonism that presented with mental retardation, pyramidal signs and epilepsy, as well as varying degrees of a progressive neurological disease. Recently a splicing mutation in the same gene was reported in two brothers with juvenile parkinsonism that was not L-Dopa responsive and not accompanied by pyramidal signs or mental retardation. Also, an 80-kb deletion that included DNAJC6 sequences was identified in a boy reported as having obesity, epilepsy and mental retardation but not any signs of parkinsonism. The phenotype of our study family resembles both of those families, which among themselves do not share any clinical features. Our findings further establish DNAJC6 as a juvenile parkinsonism gene, and expand the spectrums of the parkinsonism phenotype and DNAJC6 mutation. DNAJC6 encodes the neuronal co-chaperone auxilin. We found that its transcript is highly significantly more abundant in brain as compared to the non-neural tissues assayed. (C) 2012 Elsevier Ltd. All rights reserved.Öğe Effects of comorbid diseases on clinical outcomes in patients with myasthenia gravis(Springer-Verlag Italia Srl, 2023) Ozdemir, Huseyin Nezih; Karasoy, Hatice; Yuceyar, Ayse Nur; Ekmekci, OzgulBackgroundThis cross-sectional study was undertaken to evaluate the existence and distribution of comorbid disorders among myasthenia gravis (MG) patients according to subgroups and to identify the effects of the comorbid diseases of MG patients on clinical outcomes.MethodsThe patients were divided into six subgroups according to serum antibodies, age at onset, and thymoma presence. All patients were treated in line with the International Consensus Guidance for Management of Myasthenia Gravis. To assess the clinical outcome after treatment for MG, we used the MGFA Post-intervention Status. In generalized MG patients, the good prognosis group included patients who were classified as having minimal-manifestation status or better. In ocular MG patients, the remission subgroup included patients who were classified as having complete stable remission or pharmacological remission status.ResultsOur study included 168 MG patients, 85 were female while 83 were male. Comorbid diseases were present in 124 (73.8%) MG cases. After at least 1 year of follow-up, 106 (86.8%) of the generalized MG patients were in the good prognosis group and 16 (13.2%) generalized MG patients were in the poor prognosis group. 27 (58.6%) ocular MG patients were in the remission group and 19 (41.3%) ocular MG patients were in the non-remission group. Hypertension increased the risk of poor prognosis by 3.55-fold among patients with generalized MG and type 2 DM increased the risk of not achieving remission by 9.32-fold among patients with ocular MG.ConclusionHypertension and type 2 DM had negative effects on the clinical outcomes of MG.Öğe Epileptic nystagmus with different localization of lesions in magnetic resonance imaging in a patient with MELAS(Ege Univ, 2018) Tabakoglu, Aycin Yildiz; Ciftci, Seyma; Ekinci, Aysen Suzen; Guler, Ayse; Bademkiran, Fikret; Karasoy, Hatice; Aydogdu, IbrahimMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a syndrome which is characterized as mitochondrial myopathy, encephalopathy, lactic acidosis and recurrent stroke-like episodes. Recurrent attacks of prolonged migrainous headache, different types of epileptic seizures and repeated cerebral lesions are the main clinical features of the disease. Cerebral lesions can cause different seizure types in this syndrome according to affected brain areas. Herein, we are reporting a case of MELAS who experienced recurrent neurologic deficits, confusional states and epileptic seizures with ictal epileptic nystagmus. Ictal electroencephalogram (EEG) recordings and magnetic resonance imaging (MRI) lesions also supported to the ictal focus of epileptic nystagmus. With this case, we would like to take attention to this rare ictal event.Öğe Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations(Wiley, 2020) Sprute, Rosanne; Jergas, Hannah; Oelmez, Akguen; Alawbathani, Salem; Karasoy, Hatice; Dafsari, Hormos Salimi; Cirak, SebahattinAutosomal-recessive mutations in the Alsin Rho guanine nucleotide exchange factor (ALS2) gene may cause specific subtypes of childhood-onset progressive neurodegenerative motor neuron diseases (MND). These diseases can manifest with a clinical continuum from infantile ascending hereditary spastic paraplegia (IAHSP) to juvenile-onset forms with or without lower motor neuron involvement, the juvenile primary lateral sclerosis (JPLS) and the juvenile amyotrophic lateral sclerosis (JALS). We report 11 patients from seven unrelated Turkish and Yemeni families with clinical signs of IAHSP or JPLS. We performed haplotype analysis or next-generation panel sequencing followed by Sanger Sequencing to unravel the genetic disease cause. We described their clinical phenotype and analyzed the pathogenicity of the detected variants with bioinformatics tools. We further reviewed all previously reported cases with ALS2-related MND. We identified five novel homozygous pathogenic variants in ALS2 at various positions: c.275_276delAT (p.Tyr92CysfsTer11), c.1044C>G (p.Tyr348Ter), c.1718C>A (p.Ala573Glu), c.3161T>C (p.Leu1054Pro), and c.1471+1G>A (NM_020919.3, NP_065970.2). in our cohort, disease onset was in infancy or early childhood with rapid onset of motor neuron signs. Muscle weakness, spasticity, severe dysarthria, dysphagia, and facial weakness were common features in the first decade of life. Frameshift and nonsense mutations clustered in the N-terminal Alsin domains are most prevalent. We enriched the mutational spectrum of ALS2-related disorders with five novel pathogenic variants. Our study indicates a high detection rate of ALS2 mutations in patients with a clinically well-characterized early onset MND. Intrafamilial and even interfamilial diversity in patients with identical pathogenic variants suggest yet unknown modifiers for phenotypic expression.Öğe Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy(Pergamon-Elsevier Science Ltd, 2015) Yueceyar, Nur; Ayhan, Ozgecan; Karasoy, Hatice; Tolun, AslihanMyosin storage myopathy (MSM) is a protein aggregate myopathy caused by the accumulation of myosin in muscle fibres and results from MYH7 mutation. Although MYH7 mutation is also an established cause of variable cardiomyopathy with or without skeletal myopathy, cardiomyopathy with MSM is a rare combination. Here, we update the clinical findings in the two brothers that we previously reported as having recessively inherited MSM characterized by scapuloperoneal distribution of weakness and typical hyaline-like bodies in type 1 muscle fibres. One of the patients, weak from childhood but not severely symptomatic until 28 years of age, had an unusual combination of MSM, severe dilated cardiomyopathy, and respiratory impairment at the age of 44 years. We identified homozygous missense mutation c.5458C>T (p.R1820W) in exon 37 in these patients as the second recessive MYH7 mutation reported to date. (C) 2015 Elsevier B.V. All rights reserved.Öğe Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy(Pergamon-Elsevier Science Ltd, 2015) Yueceyar, Nur; Ayhan, Ozgecan; Karasoy, Hatice; Tolun, AslihanMyosin storage myopathy (MSM) is a protein aggregate myopathy caused by the accumulation of myosin in muscle fibres and results from MYH7 mutation. Although MYH7 mutation is also an established cause of variable cardiomyopathy with or without skeletal myopathy, cardiomyopathy with MSM is a rare combination. Here, we update the clinical findings in the two brothers that we previously reported as having recessively inherited MSM characterized by scapuloperoneal distribution of weakness and typical hyaline-like bodies in type 1 muscle fibres. One of the patients, weak from childhood but not severely symptomatic until 28 years of age, had an unusual combination of MSM, severe dilated cardiomyopathy, and respiratory impairment at the age of 44 years. We identified homozygous missense mutation c.5458C>T (p.R1820W) in exon 37 in these patients as the second recessive MYH7 mutation reported to date. (C) 2015 Elsevier B.V. All rights reserved.Öğe Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy(Pergamon-Elsevier Science Ltd, 2015) Yueceyar, Nur; Ayhan, Ozgecan; Karasoy, Hatice; Tolun, AslihanMyosin storage myopathy (MSM) is a protein aggregate myopathy caused by the accumulation of myosin in muscle fibres and results from MYH7 mutation. Although MYH7 mutation is also an established cause of variable cardiomyopathy with or without skeletal myopathy, cardiomyopathy with MSM is a rare combination. Here, we update the clinical findings in the two brothers that we previously reported as having recessively inherited MSM characterized by scapuloperoneal distribution of weakness and typical hyaline-like bodies in type 1 muscle fibres. One of the patients, weak from childhood but not severely symptomatic until 28 years of age, had an unusual combination of MSM, severe dilated cardiomyopathy, and respiratory impairment at the age of 44 years. We identified homozygous missense mutation c.5458C>T (p.R1820W) in exon 37 in these patients as the second recessive MYH7 mutation reported to date. (C) 2015 Elsevier B.V. All rights reserved.Öğe An Integrated Diagnosis Strategy for Congenital Myopathies(Public Library Science, 2013) Boehm, Johann; Vasli, Nasim; Malfatti, Edoardo; Le Gras, Stephanie; Feger, Claire; Jost, Bernard; Monnier, Nicole; Brocard, Julie; Karasoy, Hatice; Gerard, Marion; Walter, Maggie C.; Reilich, Peter; Biancalana, Valerie; Kretz, Christine; Messaddeq, Nadia; Marty, Isabelle; Lunardi, Joel; Romero, Norma B.; Laporte, JocelynCongenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient diagnostic approach. We used exome sequencing complemented by histological and ultrastructural analysis of muscle biopsies to identify the causative mutations in eight patients with clinically different skeletal muscle pathologies, ranging from a fatal neonatal myopathy to a mild and slowly progressive myopathy with adult onset. We identified RYR1 (ryanodine receptor) mutations in six patients and NEB (nebulin) mutations in two patients. We found novel missense and nonsense mutations, unraveled small insertions/deletions and confirmed their impact on splicing and mRNA/protein stability. Histological and ultrastructural findings of the muscle biopsies of the patients validated the exome sequencing results. We provide the evidence that an integrated strategy combining exome sequencing with clinical and histopathological investigations overcomes the limitations of the individual approaches to allow a fast and efficient diagnosis, accelerating the patient's access to a better healthcare and disease management. This is of particular interest for the diagnosis of congenital myopathies, which involve very large genes like RYR1 and NEB as well as genetic and phenotypic heterogeneity.Öğe Juvenile myasthenia gravis: Comparison of pre and postpubertal cases(Elsevier Science Bv, 2014) Ekmekci, Ozgul; Karasoy, Hatice; Yuceyar, Ayse NurÖğe Mitochondrial Membrane Protein-associated Neurodegeneration: Two Adult Cases with Different Clinical Presentation(Turkish Neurological Soc, 2021) Aykac, Seyma; Karakaya, Hanife; Uludag, Burhanettin; Karasoy, HaticeNeurodegeneration with brain iron accumulation is a clinically and genetically heterogeneous group of diseases. Mitochondrial membrane protein-associated neurodegeneration is a rare subtype of this disease spectrum. Thus, this case report aimed to draw attention to this rarely seen disease.Öğe Myastenia graviste kortikosteroid sağıtımı(Ege Üniversitesi, 1981) Karasoy, Hatice; Kot, BedriyeÖZET Myastenin gravisli hastaların sağıtımında kartikosetereoid kullanılması, sağıtım ilkelerinin ve kortikostereid kullanımı ile ilgili özelliklerin ayrıntılı olarak saptanması amacıyla yapılan bu çalışmadan kesin alarak myastenia gravis tanısı almış 30 olgu incelenmiştir. Olgular klinik bulguların şiddetine göre 5 gruba ayrılmıştır. Suna göre, olgularımızın %20 sinisaf okulür ve oküler tutuluşla birlikte hafif jeneralize tutuluş gösteren (grup I ve II) %80 idi ise bulber tutuluşla birlikte jeneralize tutuluş, orta ve ağır jeneralize tutuluş gösteren (grup III, IV ve V) olgular oluşturmuştur. Yardımcı incelemelendeş olguların tümünde tensilon testi olumlu sonuç vermi§fmotcr son plak işlevinin elektrcfizyclcjik alarak incelenmesinde %96,6 oranında myastenik tipte patoloji gözlenmiştir. Tircid yönünden incelemede olgularımızın, %26,6 da diffüz büyüme, %3, 3 de soğuk nedül saptanmış ancak tiroid işlevleri tüm olgularda normal bulunmuştur. Ayrıca timema yönünden yapılan radyolojik incelemelerde patoloji görülmemiştir, 24 olguda yapılan kas biapsisi incelemesinde değişen oranlarda monanükleer hücre infiltrasyenu, minimal miyepatik değişiklik, tip II lif a trof isi, minimal nörojenik değişiklik ve norma > bulgular saptanmıştır. Olgularımızın predniselen ile sağıtımında gün aşırı yüksek tok doz yöntemi uygulanmış, ancak başlangıç dozu klinik tablonun şiddetine göre seçilmiştir. Hafif tutuluşlu olgularda (grup I ve II) ortalama 50 mg/ gün aşırı, ağır tutuluşlu olgularda (grup III, IV ve V) ortalama 100 mg/ gün aşın dozlar yeterli bulunmuştur. Bu dazlarla ortalama 3 haftada klinik bulgularda düzelmenin başladığı görülmüş. başlangıç dozuna (hastanın klinik durumuna göre değişmek üzere) ortalama 10 hafta devam edilmiştir. Tüm olgularda maksimal iyileşmeye ortalama 3,5 ayda ulaşılmış, bu dönemden sonra prednisolon dozu yavaşça (3-4 haf tada 5 mg) azaltılmıştır. İyileşme devam ettikçe doz azaltılması aynı şekilde sürdürülmüş, hafif kötüleşme izlendiğinde yeniden bir önceki- 54 - doza çıkarılmıştır. Olgularımızda prednisolone kullanılan son dozu ortalama 25 mg/ gün aşırı, kullanma süresi ise ortalama 1 yıl dır. Olgularımızın büyük bir bölümünde 5-15 mg/ gün aşırı olarak kabul edilen idame dozlara henüz ulaşılmamış olup sağıtım sürdürülmektedir. Gün aşırı yüksek dcz prednisclon sağıtımı ile olguları mızda %80 oranında tam ve belirgin düzelme elde edilmiş, kalan % 20 sinde ise arta ve hafif derecede düzelme ile yanıt alınmıştır. Sonuç olarak, gün aşırı yüksek doz prednisolon sağıtımının myastenia gravis sağıtımında yararlı olduğu kanısına varılmıştırÖğe Myasthenia gravis and thymoma coexisting with myotonic dystrophy type 1(Pergamon-Elsevier Science Ltd, 2014) Ekmekci, Ozgul; Karasoy, Hatice; Bademkiran, Fikret; Akkus, Dilek Evyapan; Yuceyar, NurWe describe a 34-year old man presenting with subacute generalized myasthenic symptoms. His clinical features and laboratory investigations demonstrated both myasthenia gravis and myotonic dystrophy type 1. The computerized tomography of chest revealed anterior mediastinal mass. The lymphocyte-rich thymoma was removed surgically and he received radiotherapy. Recent observations suggested that the patients with myotonic dystrophy may have an increased risk of benign and malignant tumours but its coexistence with thymoma is very rare. The risk of thymoma associated with myotonic dystrophy is unknown. (C) 2013 The Authors. Published by Elsevier B.V. All rights reserved.
