Pub Date : 2024-05-27eCollection Date: 2024-01-01DOI: 10.29399/npa.28634
Sibel Özekmekçi
As a neurologist who has followed up countless Parkinson's patients over the last 32 years of my fifty-year career; I denied diagnosing myself with Parkinson's disease (PD), although the seldom mild involuntary "twitches" that occurred in the thumb of my right hand over a two-year period, resembled Parkinson's disease tremor. However, when these involuntary contractions became persistent; considering its similarity to characteristic resting tremor in typical PD, the positive effect of dopaminergic medications, the development of levodopa-induced dyskinesias and other non-motor symptoms, it was clear that the PD diagnosis was accurate. This situation naturally caused me anxiety, and for a year and a half, I kept my diagnosis hidden from everyone except a few close relatives. However, with the encouragement of a psychiatrist friend, when I was able to share my condition with my loved ones, I felt a relative reduction in the burden I was carrying and consequently experienced emotional relief. I am still able to carry out my daily activities independently with a rather low dose of medication, and my PD symptoms do not attract noticeable attention.
{"title":"The Parkinson's Story of a Neurologist with 32 Years of Experience on Parkinson's Disease.","authors":"Sibel Özekmekçi","doi":"10.29399/npa.28634","DOIUrl":"10.29399/npa.28634","url":null,"abstract":"<p><p>As a neurologist who has followed up countless Parkinson's patients over the last 32 years of my fifty-year career; I denied diagnosing myself with Parkinson's disease (PD), although the seldom mild involuntary \"twitches\" that occurred in the thumb of my right hand over a two-year period, resembled Parkinson's disease tremor. However, when these involuntary contractions became persistent; considering its similarity to characteristic resting tremor in typical PD, the positive effect of dopaminergic medications, the development of levodopa-induced dyskinesias and other non-motor symptoms, it was clear that the PD diagnosis was accurate. This situation naturally caused me anxiety, and for a year and a half, I kept my diagnosis hidden from everyone except a few close relatives. However, with the encouragement of a psychiatrist friend, when I was able to share my condition with my loved ones, I felt a relative reduction in the burden I was carrying and consequently experienced emotional relief. I am still able to carry out my daily activities independently with a rather low dose of medication, and my PD symptoms do not attract noticeable attention.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"61 2","pages":"175-179"},"PeriodicalIF":1.1,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11165607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141312226","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}
Pub Date : 2024-03-02eCollection Date: 2024-01-01DOI: 10.29399/npa.28743
Şakir Gica, Ahsen Büyükavşar, M Sinan Iyisoy, Hüseyin Güleç
[This corrects the article on p. 228 in vol. 58, PMID: 34526847.].
[此处更正了第 58 卷第 228 页的文章,PMID:34526847]。
{"title":"Correction: Psychometric Properties of Questionnaire of Cognitive and Affective Empathy (QCAE): Reliability and Factor Analysis Study in Turkish Sample.","authors":"Şakir Gica, Ahsen Büyükavşar, M Sinan Iyisoy, Hüseyin Güleç","doi":"10.29399/npa.28743","DOIUrl":"https://doi.org/10.29399/npa.28743","url":null,"abstract":"<p><p>[This corrects the article on p. 228 in vol. 58, PMID: 34526847.].</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"61 1","pages":"97-98"},"PeriodicalIF":1.1,"publicationDate":"2024-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10943946/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144542","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}
Pub Date : 2024-02-21eCollection Date: 2024-01-01DOI: 10.29399/npa.28568
Ali Yasin Kafes, Alpay Çiller, Mehmet Şakiroğlu
<p><strong>Introduction: </strong>This study aimed to develop an effective virtual reality (VR)-based intervention program to improve trauma symptoms of survivors of the 2023 Kahramanmaraş earthquake.</p><p><strong>Methods: </strong>In line with this aim, the sample of the study consisted of 34 earthquake survivors aged 15-72 years (mean: 38.09, standard deviation (SD): 15.09) who were directly affected by the Kahramanmaraş earthquake on February 6, 2023. A five-stage intervention program (normalization, reinterpretation, creating a safe place, developing problem-focused coping strategies, and social support) was applied to 17 participants (mean: 36.88, SD: 13.65), who constituted the intervention group, using VR technology. All participants assigned to the intervention group received the intervention, which included normalization, reinterpreting the earthquake, creating a safe place, problem-focused coping, and increasing social support, one time in a standardized manner. In the stages of reinterpretation, creating a safe place and problem-focused coping VR technology was used and, the stages of normalization and increasing social support were carried out with psychotherapeutic work involving one-to-one interaction between the researcher and the participant. The five-stage intervention program started to be implemented 51 days after the February 6 Kahramanmaraş earthquakes and all stages of the intervention were completed within seven days. Measurements were taken from the participants at two different times: pre-intervention pre-test and post-intervention post-test. The 17 participants in the control group (mean: 39.29, SD: 16.75) were placed on a waiting list. Data were collected using the "Sociodemographic Information Form", "Posttraumatic Growth Inventory", "Scale for Determining the Level of Post-Earthquake Trauma" and "Ways of Coping Scale".</p><p><strong>Results: </strong>Before the intervention, the groups were controlled in terms of posttraumatic growth, post-earthquake trauma level, fatalistic coping, social support-seeking coping, and helplessness style coping levels and no difference was observed between them (p>0.05). After the intervention, it was found that the posttraumatic growth and social support-seeking coping scores of the earthquake survivors who received VR-supported intervention were significantly higher than the scores of the control group, and the post-earthquake trauma level, fatalistic coping and helplessness style coping scores were significantly lower than the control group scores (p<0.05). As a result of the in-group analyses, it is seen that the post-traumatic growth, social support-seeking coping and problem-focused coping scores of the intervention group participants after the VR-supported intervention increased statistically significantly compared to the pre-intervention, while the post-earthquake trauma level, fatalistic coping and helplessness style coping scores decreased statistically significantly compared
{"title":"Virtual Reality Supported Intervention Program for Trauma Symptoms of Individuals Who Experienced an Earthquake: An Effectiveness Study.","authors":"Ali Yasin Kafes, Alpay Çiller, Mehmet Şakiroğlu","doi":"10.29399/npa.28568","DOIUrl":"10.29399/npa.28568","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to develop an effective virtual reality (VR)-based intervention program to improve trauma symptoms of survivors of the 2023 Kahramanmaraş earthquake.</p><p><strong>Methods: </strong>In line with this aim, the sample of the study consisted of 34 earthquake survivors aged 15-72 years (mean: 38.09, standard deviation (SD): 15.09) who were directly affected by the Kahramanmaraş earthquake on February 6, 2023. A five-stage intervention program (normalization, reinterpretation, creating a safe place, developing problem-focused coping strategies, and social support) was applied to 17 participants (mean: 36.88, SD: 13.65), who constituted the intervention group, using VR technology. All participants assigned to the intervention group received the intervention, which included normalization, reinterpreting the earthquake, creating a safe place, problem-focused coping, and increasing social support, one time in a standardized manner. In the stages of reinterpretation, creating a safe place and problem-focused coping VR technology was used and, the stages of normalization and increasing social support were carried out with psychotherapeutic work involving one-to-one interaction between the researcher and the participant. The five-stage intervention program started to be implemented 51 days after the February 6 Kahramanmaraş earthquakes and all stages of the intervention were completed within seven days. Measurements were taken from the participants at two different times: pre-intervention pre-test and post-intervention post-test. The 17 participants in the control group (mean: 39.29, SD: 16.75) were placed on a waiting list. Data were collected using the \"Sociodemographic Information Form\", \"Posttraumatic Growth Inventory\", \"Scale for Determining the Level of Post-Earthquake Trauma\" and \"Ways of Coping Scale\".</p><p><strong>Results: </strong>Before the intervention, the groups were controlled in terms of posttraumatic growth, post-earthquake trauma level, fatalistic coping, social support-seeking coping, and helplessness style coping levels and no difference was observed between them (p>0.05). After the intervention, it was found that the posttraumatic growth and social support-seeking coping scores of the earthquake survivors who received VR-supported intervention were significantly higher than the scores of the control group, and the post-earthquake trauma level, fatalistic coping and helplessness style coping scores were significantly lower than the control group scores (p<0.05). As a result of the in-group analyses, it is seen that the post-traumatic growth, social support-seeking coping and problem-focused coping scores of the intervention group participants after the VR-supported intervention increased statistically significantly compared to the pre-intervention, while the post-earthquake trauma level, fatalistic coping and helplessness style coping scores decreased statistically significantly compared","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"61 1","pages":"15-23"},"PeriodicalIF":1.1,"publicationDate":"2024-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10943945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144544","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}
Pub Date : 2024-02-19eCollection Date: 2024-01-01DOI: 10.29399/npa.28725
Cenan Hepdurgun
{"title":"The Present and Future of Artificial Intelligence Applications in Psychiatry.","authors":"Cenan Hepdurgun","doi":"10.29399/npa.28725","DOIUrl":"10.29399/npa.28725","url":null,"abstract":"","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"61 1","pages":"1-2"},"PeriodicalIF":1.1,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10943939/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144543","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}
Pub Date : 2024-02-02eCollection Date: 2024-01-01DOI: 10.29399/npa.28669
Minara Cherkezzade, Selen Soylu, Erdem Tüzün, Vuslat Yılmaz, Mine Sezgin, Zuhal Yapıcı, Cem İsmail Küçükali, Pınar Topaloğlu
Introduction: Although the contribution of enhanced glial activity in seizure induction is increasingly recognized, the role of glia-induced neuroinflammation in the physiopathology of epileptic encephalopathy (EE) has been scarcely investigated.
Methods: To delineate the contribution of glial activity in EE, we measured levels of glia-derived mediators with previously described biomarker value, including glial fibrillary acidic protein (GFAP), high mobility group box 1 (HMGB1), chitinase-3-like protein 1 (CHI3L1), soluble CD163 (sCD163) and triggering receptor expressed on myeloid cells 2 (TREM2) by ELISA in sera of patients with idiopathic West syndrome (WS, n=18), idiopathic Lennox-Gastaut syndrome (LGS, n=13) and healthy controls (n=31).
Results: Patients with EE showed significantly higher CHI3L1 levels compared to healthy controls. Levels of HMGB1, CHI3L1, sCD163 and TREM2 were higher in LGS patients than WS patients and/or healthy controls. One or more of the investigated mediators were associated with treatment responsiveness, disease severity and presence of pathological features on electroencephalography (EEG).
Conclusions: To our knowledge, our findings provide the initial patient-based evidence that astrocyte- and microglia-mediated neuroinflammation might be involved in the pathogenesis of LGS and WS. Moreover, glial mediators may serve as prognostic biomarkers in patients with idiopathic EE.
导言:尽管人们越来越认识到神经胶质活动的增强在癫痫诱发中的作用,但对神经胶质诱发的神经炎症在癫痫性脑病(EE)的生理病理中的作用却鲜有研究:为了明确神经胶质活动在 EE 中的作用,我们测量了具有生物标志物价值的神经胶质衍生介质水平,包括神经胶质纤维酸性蛋白 (GFAP)、高迁移率基团框 1 (HMGB1)、甲壳素酶-3 样蛋白 1 (CHI3L1)、通过酶联免疫吸附法检测特发性韦斯特综合征(WS,18 人)、特发性伦诺克斯-加斯豪特综合征(LGS,13 人)患者和健康对照组(31 人)血清中的可溶性 CD163(sCD163)和髓样细胞上表达的触发受体 2(TREM2)。结果显示与健康对照组相比,EE患者的CHI3L1水平明显较高。LGS患者的HMGB1、CHI3L1、sCD163和TREM2水平高于WS患者和/或健康对照组。所研究的一种或多种介质与治疗反应性、疾病严重程度和脑电图(EEG)上的病理特征有关:据我们所知,我们的研究结果提供了基于患者的初步证据,证明星形胶质细胞和小胶质细胞介导的神经炎症可能参与了 LGS 和 WS 的发病机制。此外,神经胶质介质可作为特发性 EE 患者的预后生物标志物。
{"title":"The Association Between Serum Levels of Glial Biomarkers, Clinical Severity and Electro-encephalography Features in Idiopathic West and Lennox-Gastaut Syndromes.","authors":"Minara Cherkezzade, Selen Soylu, Erdem Tüzün, Vuslat Yılmaz, Mine Sezgin, Zuhal Yapıcı, Cem İsmail Küçükali, Pınar Topaloğlu","doi":"10.29399/npa.28669","DOIUrl":"10.29399/npa.28669","url":null,"abstract":"<p><strong>Introduction: </strong>Although the contribution of enhanced glial activity in seizure induction is increasingly recognized, the role of glia-induced neuroinflammation in the physiopathology of epileptic encephalopathy (EE) has been scarcely investigated.</p><p><strong>Methods: </strong>To delineate the contribution of glial activity in EE, we measured levels of glia-derived mediators with previously described biomarker value, including glial fibrillary acidic protein (GFAP), high mobility group box 1 (HMGB1), chitinase-3-like protein 1 (CHI3L1), soluble CD163 (sCD163) and triggering receptor expressed on myeloid cells 2 (TREM2) by ELISA in sera of patients with idiopathic West syndrome (WS, n=18), idiopathic Lennox-Gastaut syndrome (LGS, n=13) and healthy controls (n=31).</p><p><strong>Results: </strong>Patients with EE showed significantly higher CHI3L1 levels compared to healthy controls. Levels of HMGB1, CHI3L1, sCD163 and TREM2 were higher in LGS patients than WS patients and/or healthy controls. One or more of the investigated mediators were associated with treatment responsiveness, disease severity and presence of pathological features on electroencephalography (EEG).</p><p><strong>Conclusions: </strong>To our knowledge, our findings provide the initial patient-based evidence that astrocyte- and microglia-mediated neuroinflammation might be involved in the pathogenesis of LGS and WS. Moreover, glial mediators may serve as prognostic biomarkers in patients with idiopathic EE.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"61 2","pages":"128-134"},"PeriodicalIF":1.0,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11165615/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141312175","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}
Pub Date : 2024-01-04eCollection Date: 2025-01-01DOI: 10.29399/npa.28643
Serdar Baraklı, Mehmet İlker Yön, Karabekir Ercan
Introduction: Unveiling the dynamic penumbra region represents another crucial stage in treating individuals with ischemic strokes. Our objective was to explore how collateral blood flow assessments using multiphasic (triphasic) CT angiography (mpCTA) and CT perfusion (CTP) examinations correlate with the expansion of infarcted areas and disability levels in patients with middle cerebral artery (MCA) M1 and M2 occlusion.
Methods: The research was carried out as a prospective, descriptive, case series study. mpCTA and CTP were performed while patients were referred to the emergency department. Baseline National Institutes of Health Stroke Scale (NIHSS), Modified Rankin Scale (mRS) and the Barthel Index for Activities of Daily Living at 3 months were calculated. The connection between perfusion parameters that represent penumbral information derived from CTP and collateral flow information obtained from mpCTA with infarct expansion and outcome was investigated.
Results: Thirty-six patients were included in the study. The mean age of the participants in the research was found 73.47±10.67. 52.8% of the individuals were male. 72.3% of the patients exhibited an unfavorable functional outcome according to mRS at 3 months. Based on the Menon collateral score from the mpCTA, the infarct expansion showed a statistically significant difference between the groups (p=0.037). The mRS scores at 3 months did not show a statistically significant difference between the groups according to the mpCTA Menon collateral score (p=0.073). Penumbra volume information obtained by using Tmax/CBV and CBF/CBV thresholds on CTP showed statistically significant differences among good and poor clinical outcome groups based on mRS at 3 months (respectively p=0.010, 0.029). The average MTT value within the penumbra obtained from the MTT/CBV map exhibited a statistically significant difference among the groups based on the mRS at 3 months (p=0.011). There was a weak but statistically significant relationship between the volume of the penumbra obtained from CTP maps created by selecting Tmax=6 sec and the infarct growth (p=0.028).
Conclusion: Final infarct volume and infarct growth can be predicted using collateral circulation data acquired through mpCTA. The patient's disability can be assessed by analyzing the penumbral MTT value and the penumbral volume data obtained from CTP maps generated using various threshold values. Moreover, penumbra volume obtained from CTP maps created by selecting Tmax as a threshold can give information about infarct growth.
{"title":"Relationship Between Collateral Status, Infarct Growth and Outcome in Patients with Middle Cerebral Artery Occlusion by CT Angiography and CT Perfusion Imaging.","authors":"Serdar Baraklı, Mehmet İlker Yön, Karabekir Ercan","doi":"10.29399/npa.28643","DOIUrl":"10.29399/npa.28643","url":null,"abstract":"<p><strong>Introduction: </strong>Unveiling the dynamic penumbra region represents another crucial stage in treating individuals with ischemic strokes. Our objective was to explore how collateral blood flow assessments using multiphasic (triphasic) CT angiography (mpCTA) and CT perfusion (CTP) examinations correlate with the expansion of infarcted areas and disability levels in patients with middle cerebral artery (MCA) M1 and M2 occlusion.</p><p><strong>Methods: </strong>The research was carried out as a prospective, descriptive, case series study. mpCTA and CTP were performed while patients were referred to the emergency department. Baseline National Institutes of Health Stroke Scale (NIHSS), Modified Rankin Scale (mRS) and the Barthel Index for Activities of Daily Living at 3 months were calculated. The connection between perfusion parameters that represent penumbral information derived from CTP and collateral flow information obtained from mpCTA with infarct expansion and outcome was investigated.</p><p><strong>Results: </strong>Thirty-six patients were included in the study. The mean age of the participants in the research was found 73.47±10.67. 52.8% of the individuals were male. 72.3% of the patients exhibited an unfavorable functional outcome according to mRS at 3 months. Based on the Menon collateral score from the mpCTA, the infarct expansion showed a statistically significant difference between the groups (p=0.037). The mRS scores at 3 months did not show a statistically significant difference between the groups according to the mpCTA Menon collateral score (p=0.073). Penumbra volume information obtained by using Tmax/CBV and CBF/CBV thresholds on CTP showed statistically significant differences among good and poor clinical outcome groups based on mRS at 3 months (respectively p=0.010, 0.029). The average MTT value within the penumbra obtained from the MTT/CBV map exhibited a statistically significant difference among the groups based on the mRS at 3 months (p=0.011). There was a weak but statistically significant relationship between the volume of the penumbra obtained from CTP maps created by selecting Tmax=6 sec and the infarct growth (p=0.028).</p><p><strong>Conclusion: </strong>Final infarct volume and infarct growth can be predicted using collateral circulation data acquired through mpCTA. The patient's disability can be assessed by analyzing the penumbral MTT value and the penumbral volume data obtained from CTP maps generated using various threshold values. Moreover, penumbra volume obtained from CTP maps created by selecting Tmax as a threshold can give information about infarct growth.</p>","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"62 1","pages":"41-47"},"PeriodicalIF":1.0,"publicationDate":"2024-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11877382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568725","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}
Pub Date : 2023-11-22eCollection Date: 2023-01-01DOI: 10.29399/npa.28417
Anıl Alp, Elçin Özçelik Eroğlu, M İrem Yıldız, Ahmet Cevdet Ceylan, Başaran Demir, Suzan Özer
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.
{"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":"<p><p>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.</p>","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}
Pub Date : 2023-11-21eCollection Date: 2024-01-01DOI: 10.29399/npa.28464
Yağmur İnalkaç Gemici, Fatih Çelik, Zeynep Zerrin Göz, Aydın İşisağ, Gülgün Yılmaz Ovalı, Mehmet Zileli, Mustafa Barutçuoğlu, Hatice Mavioğlu
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.
{"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":"<p><p>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.</p>","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}
G. Orhun, Z. Sungur, K. Koltka, M. Karadeniz, A. Yavru, H. Gurvit, M. Senturk
BACKGROUND: Cognitive dysfunction in the early postoperative course is common for the elderly population. Anesthetic management may affect postoperative cognitive decline. Effective analgesia, early recovery and modulation of the stress response are advantages of neuraxial blocks. This study aims to compare the effects of general anesthesia and the combination of general anesthesia with epidural analgesia for postoperative cognitive dysfunction (POCD). We hypothesized that neuraxial block combined with general anesthesia (GA) would have a favorable influence on POCD prevention. METHODS: Patients above 60 years undergoing non-cardiac surgery were included in this randomized, prospective study and randomized into two groups. Patients in the first group (GI) were treated under GA, whereas in the second group (GII), epidural analgesia was combined with GA. Patients’ cognitive function was assessed before and one week after surgery using a neuropsychological test battery. POCD was defined as a drop of one standard deviation from baseline on two or more tests. RESULTS: A total of 116 patients were allocated for the final analysis. Demographic and operative data were similar between groups, except maximum pain scores, which were significantly higher in GI than GII (4.9±2.8 vs. 1.7±1.7; p<0.001, respectively). The incidence of POCD was comparable between groups (26% in GI and 24% in GII). Memory performance, visuospatial functions, and language skills tests were significantly higher in GII compared to GI. CONCLUSION: General anesthesia and epidural analgesia combined with general anesthesia resulted in similar POCD in elderly patients undergoing abdominal surgery. However, in combined anesthesia group memory, language skills and visuospatial functions appeared to be better preserved. Effective pain control might contribute to preventing cognitive decline in some domains.
{"title":"Comparison of epidural analgesia combined to general anesthesia and general anesthesia for postoperative cognitive dysfunction in elderly patients","authors":"G. Orhun, Z. Sungur, K. Koltka, M. Karadeniz, A. Yavru, H. Gurvit, M. Senturk","doi":"10.29399/npa.24863","DOIUrl":"https://doi.org/10.29399/npa.24863","url":null,"abstract":"BACKGROUND: Cognitive dysfunction in the early postoperative course is common for the elderly population. Anesthetic management may affect postoperative cognitive decline. Effective analgesia, early recovery and modulation of the stress response are advantages of neuraxial blocks. This study aims to compare the effects of general anesthesia and the combination of general anesthesia with epidural analgesia for postoperative cognitive dysfunction (POCD). We hypothesized that neuraxial block combined with general anesthesia (GA) would have a favorable influence on POCD prevention. METHODS: Patients above 60 years undergoing non-cardiac surgery were included in this randomized, prospective study and randomized into two groups. Patients in the first group (GI) were treated under GA, whereas in the second group (GII), epidural analgesia was combined with GA. Patients’ cognitive function was assessed before and one week after surgery using a neuropsychological test battery. POCD was defined as a drop of one standard deviation from baseline on two or more tests. RESULTS: A total of 116 patients were allocated for the final analysis. Demographic and operative data were similar between groups, except maximum pain scores, which were significantly higher in GI than GII (4.9±2.8 vs. 1.7±1.7; p<0.001, respectively). The incidence of POCD was comparable between groups (26% in GI and 24% in GII). Memory performance, visuospatial functions, and language skills tests were significantly higher in GII compared to GI. CONCLUSION: General anesthesia and epidural analgesia combined with general anesthesia resulted in similar POCD in elderly patients undergoing abdominal surgery. However, in combined anesthesia group memory, language skills and visuospatial functions appeared to be better preserved. Effective pain control might contribute to preventing cognitive decline in some domains.","PeriodicalId":51142,"journal":{"name":"Noropsikiyatri Arsivi-Archives of Neuropsychiatry","volume":"38 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80345445","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}