Noropsikiyatri Arsivi-Archives of Neuropsychiatry最新文献

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Aquaporin-1 Antibodies in Autoimmune Inflammatory Demyelinating Disorders with Predominant Optic Nerve & Spinal Cord Involvement. 以视神经和脊髓为主的自身免疫性炎症性脱髓鞘疾病中的水通道蛋白-1抗体
IF 1 4区 医学
Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2026-03-26 eCollection Date: 2026-01-01 DOI: 10.29399/npa.29290
Erdem Tüzün, Eleni Karachaliou, Maria Pechlivanidou, Dimitrios Tzanetakos, Cem İsmail Küçükali, Vuslat Yılmaz, Zerrin Karaaslan, Elif Şanlı, Recai Türkoğlu, Murat Kürtüncü, Tuncay Gündüz, Aliki Papakonstantinou, Christos Stergiou, Sotirios Giannopoulos, Georgios Tsivgoulis, John Tzartos
{"title":"Aquaporin-1 Antibodies in Autoimmune Inflammatory Demyelinating Disorders with Predominant Optic Nerve & Spinal Cord Involvement.","authors":"Erdem Tüzün, Eleni Karachaliou, Maria Pechlivanidou, Dimitrios Tzanetakos, Cem İsmail Küçükali, Vuslat Yılmaz, Zerrin Karaaslan, Elif Şanlı, Recai Türkoğlu, Murat Kürtüncü, Tuncay Gündüz, Aliki Papakonstantinou, Christos Stergiou, Sotirios Giannopoulos, Georgios Tsivgoulis, John Tzartos","doi":"10.29399/npa.29290","DOIUrl":"10.29399/npa.29290","url":null,"abstract":"<p><strong>Introduction: </strong>Antibodies to the extracellular domain of the astrocytic aquaporin-1 (AQP-1) have been reported in patients with neuromyelitis optica spectrum disorder (NMOSD) and a few multiple sclerosis (MS) patients with predominant spinal cord involvement. Our aim was to identify the prevalence and clinical correlates of antibodies against AQP1 (AQP1-Abs) in a broader spectrum of autoimmune inflammatory demyelinating central nervous system (CNS) disorders.</p><p><strong>Methods: </strong>Sera from patients with NMOSD (n=30), recurrent inflammatory optic neuropathy (RION) (n=15), relapsing remitting MS (RRMS) (n=69), of which 10 had optic neuritis and/or short myelitis, and healthy controls (n=36) were screened for the presence of AQP1-Abs by ELISA and for antibodies against aquaporin-4 (AQP4-Abs) and myelin oligodendrocyte glycoprotein (MOG)-Abs by cell-based assays.</p><p><strong>Results: </strong>AQP1-Abs were found in 11% of patients with optic neuritis and/or myelitis [6.7% of NMOSD, 13.3% of RION and 20% of RRMS with optic neuritis and/or short myelitis]. None of the RRMS patients without optic neuritis and/or short myelitis and none of the healthy controls had AQP1-Abs. The two AQP1-Abs-positive RRMS patients, who fulfilled Barkhof criteria by virtue of MRI lesion distribution, had experienced ≥4 short myelitis and/or optic neuritis attacks.</p><p><strong>Conclusion: </strong>AQP1-Abs are occasionally detected in autoimmune inflammatory demyelinating CNS disorders highlighting optic nerve and spinal cord involvement.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"63 ","pages":"375-379"},"PeriodicalIF":1.0,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147678471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The mRNA Expression Levels of General Transcription Factors Altered in Alzheimer Cases Possibly Due to Amyloid Beta 1-42 Exposure. 淀粉样蛋白β 1-42暴露可能导致阿尔茨海默病患者中一般转录因子mRNA表达水平的改变
IF 1 4区 医学
Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2026-03-26 eCollection Date: 2026-01-01 DOI: 10.29399/npa.29229
Nazlıcan İlhan, Ebru Keskin, Erdi Şahin, Merve Alaylıoğlu, Bedia Samancı, Tugay Çamoğlu, Zuhal Yurttaş, Pelin Sordu, Sümeyra Ildız, Gülsel Ayaz, Büşra Şengül Yediel, Shahd Sahl Azzouz, Başar Bilgiç, Haşmet Ayhan Hanağası, İbrahim Hakan Gürvit, Duygu Gezen Ak, Erdinç Dursun
{"title":"The mRNA Expression Levels of General Transcription Factors Altered in Alzheimer Cases Possibly Due to Amyloid Beta 1-42 Exposure.","authors":"Nazlıcan İlhan, Ebru Keskin, Erdi Şahin, Merve Alaylıoğlu, Bedia Samancı, Tugay Çamoğlu, Zuhal Yurttaş, Pelin Sordu, Sümeyra Ildız, Gülsel Ayaz, Büşra Şengül Yediel, Shahd Sahl Azzouz, Başar Bilgiç, Haşmet Ayhan Hanağası, İbrahim Hakan Gürvit, Duygu Gezen Ak, Erdinç Dursun","doi":"10.29399/npa.29229","DOIUrl":"10.29399/npa.29229","url":null,"abstract":"<p><strong>Introduction: </strong>Given the global gene expression alterations associated with amyloid beta (Aβ), a hallmark of Alzheimer's disease (AD) pathology, this study aimed to investigate its potential role in modulating gene expression through the regulation of specific transcription factors (TFs).</p><p><strong>Methods: </strong>Using a combination of protein-protein interaction prediction tools and transcriptional regulatory interaction databases, we identified JUN, FOS, ATF2, ATF4, RELA, NF-κB, SMAD3, STAT1, STAT3, and SP1 as potential candidate TFs that might be involved in Aβ1-42 related pathways. We then conducted in vitro studies to demonstrate a direct effect of Aβ on these TFs and a case-control study to investigate any alterations of selected TFs in human samples. In vitro studies included HEK293 T cells treated with 0.09 µM and 10 µM Aβ1-42. The expression levels of the TFs were assessed by qRT-PCR. The mRNA expression levels of selected target transcription factors that have the highest PPI scores, namely JUN, FOS, and RELA, were also investigated in blood samples from core Alzheimer's disease (AD) cerebrospinal fluid (CSF) biomarker-confirmed AD cases and plasma ALZpath pTau217-confirmed healthy subjects.</p><p><strong>Results: </strong>In vitro studies indicated that the mRNA expression of most of the TFs was altered due to either the dose of Aβ or the period of treatments. JUN, FOS, NFKB, and SP1 mRNA expression were increased, while STAT1 and ATF2 were decreased within 24 hours of at least one dose of Aβ treatment. At 48 hours of treatment, FOS, STAT1, STAT3, ATF2, and SP1 were higher, whereas RELA, SMAD3, and NFKB were lower in Aβ-treated groups. At 72h of treatments, the ATF4 and NFKB expressions were high, whereas JUN FOS, RELA, STAT1, STAT3, ATF2, and SP1 were low in Aβ treated groups. Human samples showed that the mRNA levels of JUN and RELA were significantly higher in blood samples from AD cases compared to those from healthy individuals.</p><p><strong>Conclusion: </strong>Alterations in the expression levels of TFs in response to Aβ exposure may explain the alterations of the expression levels of genes that these TFs regulate. Given that, understanding the transcriptional effects of Aβ and its regulatory role on TFs may provide a perspective for the physiological roles of Aβ and the molecular pathways underlying AD pathogenesis.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"63 ","pages":"341-349"},"PeriodicalIF":1.0,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147678513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Emotional Responses and Emotion Regulation in Drug-Free Women with Major Depressive Disorder. 无药女性重度抑郁障碍的情绪反应和情绪调节。
IF 1 4区 医学
Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2026-03-26 eCollection Date: 2026-01-01 DOI: 10.29399/npa.29151
Damla İşman Haznedaroğlu, İbrahim Sungur, Ali Saffet Gönül
{"title":"Emotional Responses and Emotion Regulation in Drug-Free Women with Major Depressive Disorder.","authors":"Damla İşman Haznedaroğlu, İbrahim Sungur, Ali Saffet Gönül","doi":"10.29399/npa.29151","DOIUrl":"10.29399/npa.29151","url":null,"abstract":"<p><strong>Introduction: </strong>Major depressive disorder (MDD) is marked by increased negative emotions and decreased positive emotions, indicating impaired emotion regulation. This study aimed to examine emotional responses to positive and negative visual stimuli in drug-free female patients with MDD compared to healthy controls and to explore the connection between these responses and emotion regulation strategies.</p><p><strong>Methods: </strong>Forty-six drug-free female patients diagnosed with MDD and 40 age and educational level-matched healthy women were included. All participants underwent structured psychiatric interviews (SCID) and completed the Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), and Emotion Regulation Questionnaire (ERQ). Emotional responses to six basic emotions (sadness, disgust, anger, fear, happiness, surprise) were assessed during two block-design slide sessions using images from the International Affective Picture System (IAPS). Emotional response intensity was analyzed with repeated measures ANOVA, controlling for baseline emotion scores, menstrual cycle phase, and stimulus order.</p><p><strong>Results: </strong>Across the experiment, patients reported significantly higher overall levels of sadness (F=56.7, p<0.001), disgust (F=22.3, p<0.001), anger (F=31.4, p<0.001), fear (F=48.7, p<0.001), and surprise (F=6.7, p=0.01), and lower overall levels of happiness (F=47.4, p<0.001) compared with controls across the experiment. When baseline levels were covaried, patients exhibited heightened reactivity to negative stimuli, specifically in disgust (F=11.7, p=0.001), anger (F=4.3, p=0.04), and fear (F=14.6, p<0.001), while responses to sadness and surprise did not differ. Furthermore, when baseline emotional states were controlled, emotional reactivity to positive stimuli, including happiness, did not differ between groups.</p><p><strong>Conclusion: </strong>Contrary to a generalized emotion context insensitivity hypothesis, our findings demonstrate emotion-specific dysregulation in MDD. Drug-free female patients showed heightened reactivity to negative stimuli in terms of disgust, anger, and fear, but not sadness or surprise. Importantly, emotional responses to positive stimuli, including happiness, were comparable between patients and healthy controls. These results underscore the importance of evaluating basic emotions separately in depression research and highlight the potential value of targeting emotion-specific processes in treatment approaches.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"63 ","pages":"393-401"},"PeriodicalIF":1.0,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13065090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147678542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic Profiling of Huntington's Disease: Insights from CAG Repeat Analysis for Precision Diagnosis and Management. 亨廷顿舞蹈病的遗传谱分析:CAG重复分析对精确诊断和管理的见解。
IF 1 4区 医学
Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2026-02-19 eCollection Date: 2026-01-01 DOI: 10.29399/npa.29059
Sezin Canbek, Hazal Ceren Manazoğlu, Yaren Dinçtürk, Beyza Aydın, Murat Hakkı Yarar, Metin Eser
{"title":"Genetic Profiling of Huntington's Disease: Insights from CAG Repeat Analysis for Precision Diagnosis and Management.","authors":"Sezin Canbek, Hazal Ceren Manazoğlu, Yaren Dinçtürk, Beyza Aydın, Murat Hakkı Yarar, Metin Eser","doi":"10.29399/npa.29059","DOIUrl":"10.29399/npa.29059","url":null,"abstract":"<p><strong>Introduction: </strong>Huntington's disease is a monogenic neurodegenerative disease that is inherited in an autosomal dominant manner and is characterized by motor, psychiatric and cognitive symptoms that progress within 15 -20 years after diagnosis. In this study, we aimed to summarize our retrospectively compiled Huntington's disease diagnostic test results by correlating them with the patients' clinical findings.</p><p><strong>Methods: </strong>We conducted an analysis on a cohort of 88 individuals and evaluated their clinical symptoms. The research included the sample collections, isolation of DNA, the polymerase chain reaction (PCR) step, and capillary electrophoresis for fragment analysis. The results were assessed and the Cytosine-Adenine-Guanine (CAG) repetition count was computed.</p><p><strong>Results: </strong>The patients' CAG trinucleotide repeat (TNR) counts were determined. Individuals with a TNR of 39 and above were considered to have HD. Patients with increased clinical findings and pathogenic TNR counts were evaluated in terms of detailed phenotypic features and family history. The ages of the patients ranged from 24 to 85, with a mean age of 50.12. The study suggests that the expansion of genetic repeats may affect the age of onset of the disease. The most common initial symptoms were chorea and psychiatric symptoms. Most patients had a family history of the disease and the transmission from the father occurred earlier.</p><p><strong>Conclusion: </strong>It was emphasized that individuals with a TNR between 39 and above should be under the supervision of a physician. Prenatal diagnosis is recommended for those planning to have children. In addition, cases with a CAG trinucleotide repeat of 33 and 36 are recommended to inform the next generations about HD and to inform them about the possible effects in the future.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"63 ","pages":"209-218"},"PeriodicalIF":1.0,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12951509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147349500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel Genetic Insights into Lateral Temporal Lobe Epilepsy: Findings from Whole Exome Sequencing. 外侧颞叶癫痫的新遗传见解:来自全外显子组测序的发现。
IF 1 4区 医学
Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2026-02-19 eCollection Date: 2026-01-01 DOI: 10.29399/npa.28894
Barış Salman, Yeşim Kesim, Nermin Görkem Şirin, Seda Süsgün, Güneş Altıokka Uzun, Sibel Uğur İşeri, Nerses Bebek, Betül Baykan
{"title":"Novel Genetic Insights into Lateral Temporal Lobe Epilepsy: Findings from Whole Exome Sequencing.","authors":"Barış Salman, Yeşim Kesim, Nermin Görkem Şirin, Seda Süsgün, Güneş Altıokka Uzun, Sibel Uğur İşeri, Nerses Bebek, Betül Baykan","doi":"10.29399/npa.28894","DOIUrl":"10.29399/npa.28894","url":null,"abstract":"<p><strong>Introduction: </strong>Lateral temporal lobe epilepsy (LTLE) is characterized by auditory auras and is often associated with genetic factors. Previous studies have identified various genes linked to LTLE, including <i>LGI1</i>. However, there remains a need to explore other genetic variants that contribute to the LTLE phenotype, particularly in the absence of <i>LGI1</i> mutations.</p><p><strong>Methods: </strong>A cohort followed in our epilepsy center and diagnosed as LTLE with auditory aura was recruited to the study. We have performed whole exome sequencing data analysis of 19 patients using a two-step approach. In the first step, we have focused on six LTLE associated genes, namely <i>LGI1</i>, <i>RELN, MICAL1, CNTNAP2, DEPDC5 and SCN1A</i>. In the second step, the data was filtered against a list of epilepsy related genes.</p><p><strong>Results: </strong>Our analysis identified novel variants in LTLE-associated genes, including <i>RELN, SCN1A</i>, and <i>CNTNAP2</i>, which confirmed previous findings. Importantly, for the first time, we identified a loss-of-function variation in the <i>CHRNB2</i> gene that may be associated with the LTLE phenotype.</p><p><strong>Conclusion: </strong>Our study underscores the genetic heterogeneity of lateral temporal lobe epilepsy (LTLE) by identifying new genetic variants linked to the disorder. Notably, we propose that <i>CHRNB2</i> is a novel gene associated with LTLE, thereby broadening the spectrum of known genetic contributors. This finding highlights the complexity of LTLE's genetic landscape and suggests new pathways for future research and clinical application.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"63 ","pages":"180-186"},"PeriodicalIF":1.0,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12951495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147349222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of Muscle Oxygenation by Functional Near-Infrared Spectroscopy in Patients with Myasthenia Gravis During Rest and Exercise. 功能近红外光谱评价重症肌无力患者休息和运动时肌肉氧合。
IF 1 4区 医学
Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2026-02-19 eCollection Date: 2026-01-01 DOI: 10.29399/npa.28877
Ebru Coşkun Semiz, Merve Alökten, Ece Zeynep Karakulak, Fikret Aysal, Lütfü Hanoğlu
{"title":"Evaluation of Muscle Oxygenation by Functional Near-Infrared Spectroscopy in Patients with Myasthenia Gravis During Rest and Exercise.","authors":"Ebru Coşkun Semiz, Merve Alökten, Ece Zeynep Karakulak, Fikret Aysal, Lütfü Hanoğlu","doi":"10.29399/npa.28877","DOIUrl":"10.29399/npa.28877","url":null,"abstract":"<p><strong>Introduction: </strong>Myasthenia gravis (MG) is an autoimmune disease that is caused by autoantibodies targeting the neuromuscular junction. A few studies in the literature show that MG may negatively affect muscle metabolism. However, no current study investigates MG pathophysiology's effect on muscle oxygenation. In this study, we aimed to investigate the difference in muscle oxygenation in MG disease and to evaluate its clinical Pathophysiological implications.</p><p><strong>Methods: </strong>19 MG patients and 19 age, gender and body mass index (BMI) matched healthy controls participated in the study. Functional near-infrared spectroscopy (fNIRS) recordings were recorded from six channels over the biceps brachii muscles during the rhythmic elbow flexion-extension task.</p><p><strong>Results: </strong>It was observed that oxygenated-hemoglobin (HbO) (p = 0.008) and total hemoglobin (HbT) (p = 0.017) values during exercise were significantly lower in MG patients in the motor point of the biceps brachii muscle. In addition, at rest, deoxygenated-hemoglobin (HbR) levels were significantly lower in patients (p<0.05) in the motor point and the lateral region of the biceps brachii muscles. Additionally, a difference is observed in fNIRS values between the moderate-severe MG group and healthy controls. Also, a negative correlation was observed between exercise-state HbO and rest-state HbR values and disease severity (p<0.05).</p><p><strong>Conclusion: </strong>MG patients show deterioration in muscle oxygenation values during exercise and rest. Oxygenation values show significant differences in disease severity and negatively correlate with disease severity. Based on these findings, MG disease may affect muscle oxygenation and can be monitored by fNIRS.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"63 ","pages":"144-151"},"PeriodicalIF":1.0,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12951484/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147349536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Etiological Analysis and Classification of 108 Patients with Infantile Epileptic Spasms Syndrome Based on the 2017 International League Against Epilepsy Classification. 基于2017年国际抗癫痫联盟分类的108例小儿癫痫痉挛综合征病因分析及分型
IF 1 4区 医学
Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2026-02-16 eCollection Date: 2026-01-01 DOI: 10.29399/npa.28983
Nilüfer Eldes Hacıfazlıoğlu, Emek Uyur, Derya Güder, Kutlay Gür, Olcay Ünver, Yüksel Yılmaz
{"title":"Etiological Analysis and Classification of 108 Patients with Infantile Epileptic Spasms Syndrome Based on the 2017 International League Against Epilepsy Classification.","authors":"Nilüfer Eldes Hacıfazlıoğlu, Emek Uyur, Derya Güder, Kutlay Gür, Olcay Ünver, Yüksel Yılmaz","doi":"10.29399/npa.28983","DOIUrl":"10.29399/npa.28983","url":null,"abstract":"<p><strong>Introduction: </strong>Infantile Epileptic Spasms Syndrome (IESS) is an age-related developmental and epileptic encephalopathy that may be resistant to treatment and can negatively affect neurodevelopment. The classification of the etiology of IESS is important for its treatment, considering prognosis, and for future studies. The present study aimed to investigate the difficulties in etiologic classification of IESS based on the International League Against Epilepsy (ILAE, 2017).</p><p><strong>Methods: </strong>The data of patients diagnosed with IESS between 2014 and 2023 were reviewed retrospectively. The diagnosis of IESS was made by the presence of epileptic spasm and/or hypsarrhythmia on electroencephalography (EEG). Etiological classification was made based on the 2017 (ILAE) etiologic classification and the difficulties encountered were examined.</p><p><strong>Results: </strong>In this study, 108 patients, 63 (%58) girls and (%42)45 boys, with a mean age of 22±13 (3-72) months, were included. The etiology remained unclear in 30 patients (27.7%) and was detected in 78 patients (72.2%). The underlying causes of patients were genetic 16 (14.8%), structural 57 (61.5%), inherited metabolic diseases 4 (3.7%), and infectious 1 (0.9%). Congenital metabolic diseases were included in the metabolic diseases group. Since different etiologies could cause IESS, either alone or in combination, difficulties were encountered especially in grouping the patients with a genetic origin of the disease, resulting in structural anomalies and inherited metabolic diseases.</p><p><strong>Conclusion: </strong>The basic difficulty encountered during the ILAE classification of this large group of patients was to classify the genetic causes that result in structural anomalies and congenital metabolic diseases. Previous experience, along with the findings of the present study, suggest that ILAE 2017 etiologic classification may be revised, genetic reasons resulting in structural and/or metabolic abnormalities should be classified under the name of genetic origin and that genetic titles should be divided into subgroups such as genetic metabolic, genetic structural, and other genetic categories.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"63 ","pages":"163-168"},"PeriodicalIF":1.0,"publicationDate":"2026-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12951502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147349546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Study on the Association of Ccrl2 Atypical Chemokine Receptor Polymorphism with the Disease Progression of Multiple Sclerosis in Turkish Patients: Insights From a Negative Study. Ccrl2非典型趋化因子受体多态性与土耳其多发性硬化症患者疾病进展的相关性研究:来自阴性研究的见解
IF 1 4区 医学
Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2026-02-02 eCollection Date: 2026-01-01 DOI: 10.29399/npa.28943
Nazire Pınar Acar Özen, Utku Horzum, Rana Karabudak, Aslı Tuncer
{"title":"A Study on the Association of Ccrl2 Atypical Chemokine Receptor Polymorphism with the Disease Progression of Multiple Sclerosis in Turkish Patients: Insights From a Negative Study.","authors":"Nazire Pınar Acar Özen, Utku Horzum, Rana Karabudak, Aslı Tuncer","doi":"10.29399/npa.28943","DOIUrl":"10.29399/npa.28943","url":null,"abstract":"<p><strong>Introduction: </strong>Multiple sclerosis (MS) is a multifactorial disease resulting from the interaction of genetic and environmental factors. Although several genetic polymorphisms have been associated with MS pathogenesis, the role of atypical chemokine receptors (ACKRs) remains insufficiently elucidated. Experimental studies suggest that CCRL2, an ACKR, may play a role in the chronic phase of the disease. This study aimed to investigate whether the CCRL2 F167Y polymorphism is associated with MS susceptibility, age at disease onset, and disease severity.</p><p><strong>Methods: </strong>A total of 134 patients with MS, diagnosed according to the 2017 McDonald criteria, and 44 healthy controls were included. The CCRL2 F167Y (rs3204849) polymorphism was analyzed using the PCR-RFLP method. Genotype and allele frequencies and their associations with clinical parameters were evaluated using appropriate statistical analyses.</p><p><strong>Results: </strong>No significant differences in genotype or allele distributions were observed between patients and controls. The F167Y polymorphism was not associated with MS susceptibility, age at onset, or EDSS scores.</p><p><strong>Conclusion: </strong>The CCRL2 F167Y polymorphism is not associated with MS pathogenesis or disease severity in the Turkish population. However, the present findings need to be confirmed and reinforced in future studies using large-scale populations with different ethnicities.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"63 ","pages":"176-179"},"PeriodicalIF":1.0,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12951490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characteristics of Brain Metastases Identified by PET-CT Imaging in Patients with Lung Cancer. 肺癌患者脑转移的PET-CT影像学特征
IF 1 4区 医学
Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2026-02-02 eCollection Date: 2026-01-01 DOI: 10.29399/npa.28938
Çetin Yakışık, Celal Satıcı, Sinem Nedime Sökücü, Ayşegül Erinç, Reşit Akyel, Şenay Aydın
{"title":"Characteristics of Brain Metastases Identified by PET-CT Imaging in Patients with Lung Cancer.","authors":"Çetin Yakışık, Celal Satıcı, Sinem Nedime Sökücü, Ayşegül Erinç, Reşit Akyel, Şenay Aydın","doi":"10.29399/npa.28938","DOIUrl":"10.29399/npa.28938","url":null,"abstract":"<p><strong>Introduction: </strong>Contrast enhanced magnetic resonance imaging (MRI) could not be performed in all patients due to some contraindications. We aimed to demonstrate the characteristics of brain metastases that could be diagnosed with positron emission tomography - computed tomography (PET-CT) among patients with lung cancer.</p><p><strong>Methods: </strong>Four hundred thirty nine patients diagnosed with lung cancer and brain metastasis between 2019 and 2023 were evaluated. A total of 642 brain metastasis lesions were identified, of which 286 were detectable on PET-CT. Univariate and multivariate logistic regression analyses were used to identify independent predictors of PET-CT positivity.</p><p><strong>Results: </strong>Out of all patients, 86.6% were male and the mean ± SD age was 64.8±9.3. Comorbidities were present in 205 patients (46.7%), with chronic obstructive pulmonary disease (COPD) being the most prevalent (27.1%). The majority of metastases were located in the frontal lobe (37.2%) followed by the parietal lobe (26.6%). Notably, PET-CT negative lesions were more likely to have peritumoral edema than PET-CT positive lesions had (67% vs. 56%, p=0.004). The median tumor diameter for PET-CT positive lesions was larger than PET-CT negative lesions (18 vs 10 mm, p<0.001). The discriminative accuracy of tumor diameter in predicting PET-CT positivity was found to be high, with an area under the curve (AUC) of 0.70 (95% CI: 0.65 to 0.73). For an optimal cut-off value of 14 mm, sensitivity of tumor diameter was 71.68% and specificity was 58.71.</p><p><strong>Conclusion: </strong>Brain metastases larger than 14 mm and those without peritumoral edema tend to have increased detectability with PET-CT in a large group of lung cancer patients. Since the diagnostic role of PET-CT could not be fully analyzed due to the study design, further research including patients without brain metastases is recommended.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"63 ","pages":"158-162"},"PeriodicalIF":1.0,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12951511/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147349442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Noninvasive Assessment Follow-Up of Progress in MS Patients. 多发性硬化症患者进展的无创评估随访。
IF 1 4区 医学
Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2026-02-02 eCollection Date: 2026-01-01 DOI: 10.29399/npa.28988
Tuğçe Gezer Karabacak, Ahmet Kasım Kılıç, Hediye Pınar Günbey, Banu Özen Barut
{"title":"Noninvasive Assessment Follow-Up of Progress in MS Patients.","authors":"Tuğçe Gezer Karabacak, Ahmet Kasım Kılıç, Hediye Pınar Günbey, Banu Özen Barut","doi":"10.29399/npa.28988","DOIUrl":"10.29399/npa.28988","url":null,"abstract":"<p><strong>Introduction: </strong>Multiple sclerosis (MS) is the leading cause of disability in young adults. We aimed to monitor disease progression characteristics using cognitive and physical parameters with optical coherence tomography (OCT) and Magnetic Resonance Spectroscopy (MRS).</p><p><strong>Methods: </strong>Fifteen relapsing remitting (RRMS), thirteen secondary progressive (SPMS) and twelve primary progressive (PPMS) patients were included. The Expanded Disability Status Scale (EDSS), Nine-Hole Peg Test (9 HPT), Timed 25-Foot Walk Test (T25FWT), Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS), Montreal Cognitive Assessment (MoCA), MRS and OCT examinations were performed at baseline and follow-up.</p><p><strong>Results: </strong>EDSS, Beck Depression Scale scores, 9-HPT and T25FWT duration scores were higher in the PPMS group compared to the other groups, whereas MoCA, SDMT, CVLT2, and BVMT-R scores were the lowest in this group. Retinal nerve fiber layer (RNFL) measurements in the right (p=0.023) and left (p=0.028) nasal quadrants were found to be higher in the RRMS group compared to the progressive groups. Baseline MRS showed a lower Thalamus myoinositol/creatinine (mI/Cr) ratio in progressed patients compared to stable patients (p=0.003). A cut-off value of baseline Thalamus mI/Cr ratio <0.066 for predicting disease progression based on baseline Thalamus mI/Cr was determined to be <0.066, with an 81.82% sensitivity, and 79.17% specificity, 64.29% positive predictive value (PPV), and 90.48% negative predictive value (NPV) (p=0.003).</p><p><strong>Conclusion: </strong>Early detection of disease progression has critical importance for MS. Besides prognostic serum or cerebrospinal fluid biomarker tests, noninvasive methods such as disability scales and/or imaging techniques may have a significant impact and are easily replicable. As an advanced imaging technique, MRS has the potential for ongoing tissue inflammation. In parallel with that, we have obtained a cut-off thalamic mI/Cr ratio value as a significant predictor of disease progression in MS patients.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"63 ","pages":"169-175"},"PeriodicalIF":1.0,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12951508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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