Noropsikiyatri Arsivi-Archives of Neuropsychiatry最新文献_第7页

c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review. 在一名超耐药精神分裂症患者中发现的 KMT2D 基因 c.4168G>A(p.Ala 1390Thr)变异：病例报告和文献综述。

IF 1.1 4区医学

Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2023-11-22 eCollection Date: 2023-01-01 DOI: 10.29399/npa.28417

Anıl Alp, Elçin Özçelik Eroğlu, M İrem Yıldız, Ahmet Cevdet Ceylan, Başaran Demir, Suzan Özer

{"title":"c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review.","authors":"Anıl Alp, Elçin Özçelik Eroğlu, M İrem Yıldız, Ahmet Cevdet Ceylan, Başaran Demir, Suzan Özer","doi":"10.29399/npa.28417","DOIUrl":"https://doi.org/10.29399/npa.28417","url":null,"abstract":"Schizophrenia has a multifactorial etiology with a significant genetic component. Genome-wide association studies have identified common variants in candidate genes. However, the common variant can only account for a portion of the genetic variation underlying the disorder. Therefore, researchers suggest that rare variants may be one source of missing heritability in schizophrenia. We report the case of a 20-year-old male patient diagnosed with early-onset and ultra-treatment-resistant schizophrenia and mild intellectual disability and discuss certain rare genetic variants that may be involved in the etiology. He was hospitalized for the initiation of clozapine treatment and was referred to the department of genetics because he had macrocephaly, high arched palate, a prominent forehead, hearing impairment, and hyperpigmented skin lesions. The whole exome sequencing analysis revealed a heterozygous 4168G>A(p.Ala1390Thr) variant in exon 15 of KMT2D (Lysine N-Methyltransferase 2D) (NM_003482.4) gene, which is associated with Kabuki Syndrome. The variants in KMT2D have been reported to be associated with brain development and may play a role in schizophrenia. We discussed the relationship between schizophrenia and genetic variants detected in this case in light of the literature.","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"60 4","pages":"380-384"},"PeriodicalIF":1.1,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10709702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138805538","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

Anaplastic Ependymoma and Atypical Refractory Longitudinal Expansive Transverse Myelitis Due to Immune Reaction After COVID-19 - A Case Discussion That Raises Many Unknown Questions About Covid-19. COVID-19后免疫反应致间变性室管膜瘤和非典型难治性纵向扩张性横贯脊髓炎——一例对COVID-19提出许多未知问题的讨论

IF 1 4区医学

Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2023-11-21 eCollection Date: 2024-01-01 DOI: 10.29399/npa.28464

Yağmur İnalkaç Gemici, Fatih Çelik, Zeynep Zerrin Göz, Aydın İşisağ, Gülgün Yılmaz Ovalı, Mehmet Zileli, Mustafa Barutçuoğlu, Hatice Mavioğlu

{"title":"Anaplastic Ependymoma and Atypical Refractory Longitudinal Expansive Transverse Myelitis Due to Immune Reaction After COVID-19 - A Case Discussion That Raises Many Unknown Questions About Covid-19.","authors":"Yağmur İnalkaç Gemici, Fatih Çelik, Zeynep Zerrin Göz, Aydın İşisağ, Gülgün Yılmaz Ovalı, Mehmet Zileli, Mustafa Barutçuoğlu, Hatice Mavioğlu","doi":"10.29399/npa.28464","DOIUrl":"10.29399/npa.28464","url":null,"abstract":"Inflammatory neurologic manifestations, both infectious and non-infectious, have been reported secondary to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2/COVID-19). However, the relationship of spinal tumor and COVID-19 longitudinally extensive transverse myelitis (LETM) coexistence has never been reported in our knowledge. The clinical presentation and response to treatment of a 24-year-old female patient diagnosed with COVID-19 LETM and anaplastic ependymoma are described in this case report. The Patient's cerebrospinal fluid COVID-19 antibody level was higher than serum and she was resistant to immunosuppressive treatment. The interaction between COVID-19 and spinal tumor was discussed in the light of the literature. It is thought that COVID-19 infection could trigger tumor growth in this patient. Also, this is the first case of anaplastic ependymoma and COVID-19 myelitis coexistence in the literature.","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"98 1","pages":"370-373"},"PeriodicalIF":1.0,"publicationDate":"2023-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11638568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73602011","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

Majör depresyon ve anksiyete bozukluğu hastalarında gece yeme sendromu

IF 1.1 4区医学

Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2014-01-01 DOI: 10.4274/NPA.Y7204

Suat Kucukgoncu, Emrem Bestepe

引用次数: 2

Personality and primary dysmenorrhea: a study using a five-factor model in Chinese university women 性格与原发性痛经:中国女大学生五因素模型的研究

IF 1.1 4区医学

Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2012-01-01 DOI: 10.4274/NPA.Y5965

Weiwei Liang, Ying-chun Zhang, Huajun Li, Jing Chu, Zhenwei Qin, L. Lou, Zhi-qian Li, Xiaohui Zou, Wei He, Wei Wang

{"title":"Personality and primary dysmenorrhea: a study using a five-factor model in Chinese university women","authors":"Weiwei Liang, Ying-chun Zhang, Huajun Li, Jing Chu, Zhenwei Qin, L. Lou, Zhi-qian Li, Xiaohui Zou, Wei He, Wei Wang","doi":"10.4274/NPA.Y5965","DOIUrl":"https://doi.org/10.4274/NPA.Y5965","url":null,"abstract":"Ad dress for Cor res pon den ce/Ya z›fl m a Ad re si: Wei WANG, DSc, Zhejiang University School of Medicine, Department of Clinical Psychology and Psychiatry, Hangzhou, Zhejiang, China Gsm: +57188208188 E-mail: drwang@doctor.com or wangmufan@msn.com Re cei ved/ G e liş ta ri h i: 30.12.2010 Ac cep ted/ K a bul ta ri h i: 19.07.2011 © Arc hi ves of Neu ropsy chi atry, pub lis hed by Ga le nos Pub lis hing. / Nö rop si ki yat ri Ar fli vi Der gi si, Ga le nos Ya y› ne vi ta ra f›n dan ba s›l m›fl t›r. ÖZET Am aç: Primer dismenoresi olanların, beş-faktör modelinde tanımlandığı gibi kişilik farklılıklarının olup olmadığını açık değildir. Yön tem : Anksiyetesi veya depresyonu olmayan primer dismenoreli 49 ve dismenoresi olmayan sağlıklı 142 üniversiteli kadın, Zuckerman-Kuhlman Kişilik Sorgulaması (ZKPQ) ve Dismenorenin İşlevsel ve Duygusal Ölçümü (FEMD) testleri ile değerlendirildi. Depresyon eğilimi Plutchik-van Praag Depresyon Envanteri (PVP), ağrı şiddeti görsel Analog Ölçeği ile Ölçüldü. Bul gu lar: Dismenoreli grupta, iki FEMD ölçeği, ZKPQ Nörotizm-Anksiyete ve İmpulsif Duyum Araştırma ölçekleri, görsel analog ölçeği ve PVP puanları kontrol grubuna göre yüksekti. Dismenore grubunda FEMD Duygusal ölçeği ile ZKPQ Aktivite ölçeği arasında pozitif korelasyon vardı. So nuç: Saf dismenoreli kadınlarla yapılan çalışmamızda, bu bozukluğun artmış Nörotizm-Anksiyete ve İmpulsif Duyum Yönelimi ile karakterize olduğu gösterilmiştir. (Nö rop si ki yat ri Ar fli vi 2012;49: 92-95) Anah tar ke li m e ler: Aktivite, impulsif duyum yönelimi, nörotizm-anksiyete, primer dismenore","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"186 1","pages":"92-95"},"PeriodicalIF":1.1,"publicationDate":"2012-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77683645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 16

Nöropsikiyatrik Belirtilerle İlişkili Tüberküloz Lenfadenit: Bir Katatoni Olgusu

IF 1.1 4区医学

Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2011-12-15 DOI: 10.4274/NPA.Y5768

Yavuz Selvi, P. Özdemir, Abdullah Atli̇, Lütfullah Beşiroğlu

引用次数: 0

Bir Üniversite Hastanesi Psikiyatri Kliniğinde Yatan Hastaların Maliyet Analizi

IF 1.1 4区医学

Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2011-09-15 DOI: 10.4274/NPA.5443

Halis Ulaş, Z. Tunca

引用次数: 4

Psikiyatrik bozukluğu olan ve olmayan ergenlerde problemli internet kullanımı

IF 1.1 4区医学

Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2011-09-15 DOI: 10.4274/NPA.5452

A. Tahiroğlu, G. Çelik, Cigil Fettahoglu, Veli Yıldırım, Fevziye Toros, A. Avci, Esin Ozatalay, Mehtap Uzel

引用次数: 9

Investigation of the Relationship Between Clinical and EEG Findings of Photosensitive Epilepsy and GABA Receptor Alpha 1 Subunit (GABRA1) Gene Mutations 光敏性癫痫临床与脑电图表现与GABA受体α 1亚基(GABRA1)基因突变关系的研究

IF 1.1 4区医学

Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2011-09-15 DOI: 10.4274/NPA.Y5599

E. Yavuz, A. Demirkan, Sanne Moen, Ö. Özdemir, Suzin Çatal, N. Bebek, U. Ozbek, B. Baykan

{"title":"Investigation of the Relationship Between Clinical and EEG Findings of Photosensitive Epilepsy and GABA Receptor Alpha 1 Subunit (GABRA1) Gene Mutations","authors":"E. Yavuz, A. Demirkan, Sanne Moen, Ö. Özdemir, Suzin Çatal, N. Bebek, U. Ozbek, B. Baykan","doi":"10.4274/NPA.Y5599","DOIUrl":"https://doi.org/10.4274/NPA.Y5599","url":null,"abstract":"Objective: Although photosensitive epilepsy (PE) is commonly observed, its pathophysiology has not been clarified yet. However, relevant literature indicates that genetic factors play an important role. Our aim was to investigate whether there is a relationship between the clinical and electroencephalographic (EEG) features and the possible mutations/polymorphisms in the GABA receptor alpha 1 subunit (GABRA1) gene in patients with PE by scanning this gene. Methods: 54 patients diagnosed as having PE according to International League Against Epilepsy (ILAE) criteria were included in the study. The patients were analyzed in terms of gender, clinical and syndromic features, response to treatment, EEG features, and photoparoxysmal response (PPR) types. Mutation screening was done by denaturing high-performance liquid chromatography (DHPLC) on all exons belonging to GABRA1 gene. Results: We could not detect any mutation in GABRA1 gene in patients with PE. Four single-nucleotide polymorphisms (SNPs) in GABRA1 gene were observed, but none of them were associated with amino acid changes. Besides, when comparing the patients having these SNPs with the remaining patients without any SNPs in regard to clinical and EEG features, we were not able to find a statistically significant difference for GABRA1 gene. Conclusion: The lack of mutations in the GABRA1 gene indicates that this gene is not predominantly involved in the etiopathogenesis of PE in the Turkish population. In order to get more precise evidence, the research should be extended by increasing the number of patients and by investigating other genes related to GABA. (Archives of Neuropsychiatry 2011; 48: 39-43)","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"1 1","pages":"39-43"},"PeriodicalIF":1.1,"publicationDate":"2011-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4274/NPA.Y5599","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72521979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Bipolar Hastalarda Serum Ghrelin Seviyeleri ve Metabolik Sendrom Arasi{dotless}ndaki İlişki

IF 1.1 4区医学

Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2011-09-15 DOI: 10.4274/NPA.Y5648

Aysun Kalenderoǧlu, Haluk A. Savaş, H. S. Gergerlioğlu, Kemal Başaralı, Mehmet Yumru, Salih Selek, Sadik Buyukbas, Neyhan Ergene

引用次数: 0

Uzun süreli valproik asit ve karbamazepin tedavisinin vücut kitle indeksi ve serum lipid düzeyi üzerine etkisi

IF 1.1 4区医学

Noropsikiyatri Arsivi-Archives of Neuropsychiatry Pub Date : 2011-09-15 DOI: 10.4274/NPA.Y5982

Orhan Deniz, Dönmez Hava Keklikoğlu, Selda Keskin, Gönül Vural

引用次数: 2