Actas espanolas de psiquiatria最新文献

{"title":"Schisandrin A Alleviates Inflammation and Oxidative Stress in Aβ25-35-Induced Alzheimer's Disease in Vitro Model.","authors":"Siting Jia, Huibo Guan, Shujuan Zhang, Quan Li","doi":"10.62641/aep.v52i5.1680","DOIUrl":"https://doi.org/10.62641/aep.v52i5.1680","url":null,"abstract":"<p><strong>Background: </strong>Schisandra extract has therapeutic and preventive effects on Alzheimer's disease (AD). Therefore, this study evaluated the anti-AD potential of Schisandrin A (SCH A) using an in vitro cell model.</p><p><strong>Methods: </strong>SH-SY5Y and SK-N-SH cells were treated with 20 µM amyloid β-protein (Aβ)25-35. The Aβ25-35-induced cells were then exposed to different concentrations of SCH A (1, 5, 10, 15 µg/mL). Moreover, to further explore the role of the extracellular signal-regulated kinase (ERK)/mitogen-activated protein kinase (MAPK) pathway in the anti-AD effects of SHC A, SH-SY5Y cells were treated with SCH A following incubation with ERK activator LM22B-10. The impact of SCH A on cell viability and apoptosis was evaluated using 3-(4,5-dimethyl-2-thiazolyl)-2,5-diphenyl-2-H-tetrazolium bromide (MTT) and flow cytometry. Furthermore, the oxidative stress markers and inflammatory cytokine levels were also assessed. The reactive oxygen species (ROS) levels were examined using 2',7'-Dichlorodihydrofluorescein Diacetate (DCFH-DA) method. Finally, Western blot analysis was employed to evaluate the phospho-ERK1/2 (p-ERK1/2) and ERK1/2.</p><p><strong>Results: </strong>We observed that SCH A treatment (5, 10, 15 µg/mL) substantially increased the cell viability (p < 0.05), and reduced the apoptosis rate (10 and 15 µg/mL) in SH-SY5Y and SK-N-SH cells (p < 0.05). SCH A significantly ameliorated oxidative stress and reduced inflammatory cytokine levels in Aβ25-35-induced cells (p < 0.05). Furthermore, SCH A up-regulated the p-ERK1/2 to ERK1/2 ratio in Aβ25-35-induced cells. However, LM22B-10 treatment was found to exacerbate this effect of SCH A (p < 0.05).</p><p><strong>Conclusion: </strong>SCH A reduces the Aβ25-35-induced inflammatory response and oxidative stress in SH-SY5Y and SK-N-SH cells, and the activation of the ERK/MAPK signaling pathway was related to its potential mechanism.</p>","PeriodicalId":7251,"journal":{"name":"Actas espanolas de psiquiatria","volume":"52 5","pages":"724-732"},"PeriodicalIF":1.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11474961/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455645","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}

{"title":"Predictors of Psychiatric Complications in Patients with Pancreatic Cancer: A Retrospective Cohort Study.","authors":"Lewei Liu, Shuo Chen","doi":"10.62641/aep.v52i4.1798","DOIUrl":"10.62641/aep.v52i4.1798","url":null,"abstract":"<p><strong>Background: </strong>The relevant survey has shown a high incidence of psychiatric complications in patients with pancreatic cancer. While some studies have explored the factors influencing psychological complications in pancreatic cancer patients, some factors validated in other populations have not been confirmed in the pancreatic cancer population. This study aims to explore the predictors of psychiatric complications in patients with pancreatic cancer.</p><p><strong>Methods: </strong>Patients with pancreatic cancer admitted to Yueqing People's Hospital Affiliated to Wenzhou Medical University, from January 2021 to January 2022 were retrospectively analyzed. The structured clinical interview (SCID-I) based on Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) was used by nurses to assess the incidence of psychiatric complications during hospitalization (baseline) and 3 months after the start of treatment. Binary logistic regression was used to identify predictors of psychiatric complications.</p><p><strong>Results: </strong>80 patients were enrolled in this study and 8 patients were diagnosed with psychiatric complications at base line. Among the rest 72 patients, 8 patients (11.11%) had new-onset psychiatric complications at 3-month follow-up. Gender (Odds Ratio (OR) = 1.674, p = 0.019), monthly income (OR = 1.735, p = 0.023) and sadness (M.D. Anderson Symptom Inventory (MDASI)) (OR = 1.804, p = 0.001) were all predictors for psychiatric complications in patients with pancreatic cancer.</p><p><strong>Conclusions: </strong>Gender, monthly income and MDASI score are predictors of psychiatric complications in patients with pancreatic cancer.</p>","PeriodicalId":7251,"journal":{"name":"Actas espanolas de psiquiatria","volume":"52 4","pages":"495-502"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141915878","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}

{"title":"Difference in Laterality of the Dorsal Striatum in Schizoaffective Disorder.","authors":"Halim Ömer Kaşıkcı, Özlem Gül, Sema Baykara, Mustafa Nuray Namlı, Turgay Öner, Murat Baykara","doi":"10.62641/aep.v52i4.1629","DOIUrl":"10.62641/aep.v52i4.1629","url":null,"abstract":"<p><strong>Background: </strong>Recent research has demonstrated that the dorsal striatum is directly associated with the integration of cognitive, sensory-motor, and motivational/emotional data. Disruptions in the corticostriatal circuit have been implicated in the pathophysiology of psychosis. The dorsal striatum was reported to show lateralized pathology in psychotic disorders. In this study, we aimed to analyze the laterality of the dorsal striatum with texture analysis of T2-weighted magnetic resonance imaging (MRI) images from schizoaffective disorder (SAD) patients.</p><p><strong>Methods: </strong>Twenty SAD patients, met the inclusion criteria and had available cranial MRI data were assigned as the patient group. Twenty healthy individuals were determined as the control group. Texture analysis values were obtained from striatum region of interests (ROI) generated from T2-weighted MRI images. Data are presented as mean and standard deviation. The suitability of the data for normal distribution was analyzed with the Kolmogorov-Smirnov test. Analysis of variance (ANOVA) test (Post Hoc TUKEY) was employed to compare the group data based on test findings.</p><p><strong>Results: </strong>There was no significant difference between the groups in terms of gender and age. There were differences in the values of texture analysis parameters of both caudate and putamen nuclei in comparison to controls. We identified differences in the left dorsal striatum nuclei in SAD. The differences in the putamen were more and more pronounced than in the caudate.</p><p><strong>Conclusions: </strong>Texture analyses suggest that the left dorsal striatum nuclei may be different in SAD patients. Further studies are needed to determine the pathophysiology of SAD and how it may affect disease treatment.</p>","PeriodicalId":7251,"journal":{"name":"Actas espanolas de psiquiatria","volume":"52 4","pages":"503-511"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319760/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141915884","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}

{"title":"Effect of a Nurse-Led Exercise Program on Depression in Elderly Patients with Diabetes: A Retrospective Study.","authors":"Li Peng, Ran Wei, Yi Lu","doi":"10.62641/aep.v52i4.1597","DOIUrl":"10.62641/aep.v52i4.1597","url":null,"abstract":"<p><strong>Background: </strong>Patients with diabetes often face psychological challenges, particularly depression. The coexistence of these two conditions can significantly impact both the mental and physical health of individuals. This study aims to investigate the effects of nurse-led exercise training on elderly patients diagnosed with type 2 diabetes mellitus and comorbid depression through experimental research. By selecting appropriate exercise programs for patients, the study seeks to identify effective strategies for improving both their physical health and depressive symptoms. Additionally, it aims to offer tailored exercise recommendations to enhance the overall well-being of these patients.</p><p><strong>Method: </strong>The observation group (n = 53) and the control group (n = 53) were selected based on the interventions documented in the patients' medical records, with eligible patients identified as research participants. The control group received standard medication, while the observation group engaged in intensive exercise training in addition to their standard treatment, dedicating 60-90 min per day to exercise. Prior to and following the intervention, blood glucose indices, levels of 5-hydroxytryptamine (5-HT) and norepinephrine (NE), self-rating depression scale (SDS), Self-Rating Anxiety Scale (SAS), Pittsburgh Sleep Quality Index (PSQI), and Generic Quality of Life Inventory (GQOLI-74) scores were assessed to evaluate the impact of the exercise training intervention.</p><p><strong>Result: </strong>Following the intervention, levels of fasting blood glucose (FBG), 2-h postprandial blood glucose (PBG), and Hemoglobin A1c (HbA1c) were reduced compared to pre-intervention levels, with the exercise group exhibiting lower levels than the control group (p < 0.05). Additionally, post-intervention, patients' levels of 5-HT and NE increased, with the exercise group demonstrating higher levels than the control group (p < 0.05). Moreover, post-intervention, SDS and SAS scores decreased, with more significant improvements observed in the observation group (p < 0.05). Furthermore, the intervention improved sleep quality and quality of life among patients in the exercise group compared to those in the control group (p < 0.05).</p><p><strong>Conclusion: </strong>Nurse-guided exercise training demonstrates a significant capacity to ameliorate glycemic indexes among patients with diabetes mellitus comorbid with depression. It not only diminishes depression and anxiety levels but also enhances the expression of 5-HT and NE. Furthermore, it effectively elevates patients' sleep quality and quality of life. These findings underscore the potential of nurse-led exercise interventions for clinical promotion and widespread application.</p>","PeriodicalId":7251,"journal":{"name":"Actas espanolas de psiquiatria","volume":"52 4","pages":"437-444"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319739/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141915885","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}

{"title":"Effectiveness of Electroconvulsive Therapy in Functional Neurological Disorders: A Case Report.","authors":"María Del Pilar Paz-Otero, Lucía Gallego Deike","doi":"10.62641/aep.v52i4.1624","DOIUrl":"10.62641/aep.v52i4.1624","url":null,"abstract":"<p><p>Electroconvulsive therapy is a type of therapy frequently used in psychiatric clinical practice. Although it is generally used for the treatment of affective disorders or severe and/or resistant psychotic disorders, it has also demonstrated its usefulness in many other neuropsychiatric conditions. We present the case of a 26-year-old woman, previously diagnosed with a functional neurological disorder-with fixed dystonia phenotype in the right upper limb-, admitted to our hospital for a severe depressive episode. After noting the absence of clinical improvement with psychopharmacological treatment, it was decided to give electroconvulsive therapy, receiving a total of 11 sessions, 9 of which were effective, with bifrontotemporal application, three times a week. The patient experienced a significant improvement, not only at an affective and behavioral level, but also in the dystonia, recovering most of the mobility in the right hand and completely relinquishing the pain. Although scientific evidence is scarce regarding the use of electroconvulsive therapy in functional neurological disorders, this clinical case supports the existing literature and raises this therapy as a possibility in resistant and comorbid conditions with severe affective disorders.</p>","PeriodicalId":7251,"journal":{"name":"Actas espanolas de psiquiatria","volume":"52 4","pages":"583-587"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141915886","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}

{"title":"The Impact of Combined Application of Donepezil and Nimodipine on Patients with Comorbid Cerebral Small Vessel Disease and Cognitive Dysfunction: Efficacy and Influence on Nutritional Status.","authors":"Lu Sun, Linqing Ma, Liyan Ren","doi":"10.62641/aep.v52i4.1647","DOIUrl":"10.62641/aep.v52i4.1647","url":null,"abstract":"<p><strong>Background and objective: </strong>Cerebral small vessel disease (CSVD) often coexists with cognitive dysfunction in patients, leading to significant challenges in treatment and management. This study aimed to examine the efficacy of combined application of donepezil and nimodipine on patients with comorbid CSVD and cognitive dysfunction and the effects on patients' albumin and prealbumin levels.</p><p><strong>Methods: </strong>The records of 112 patients with comorbid CSVD and cognitive dysfunction treated at the People's Hospital of Suzhou New District from January 2019 to December 2022 were analysed retrospectively. A total of 50 patients receiving donepezil were allocated to the control group, and 62 patients receiving both nimodipine and donepezil to the study group. Outcomes compared between the two groups included serum homocysteine (Hcy), high sensitivity C-reactive protein (hs-CRP), albumin, and prealbumin before and after therapy, efficacy, and adverse reactions. Additionally, logistic regression was performed to analyze the risk factors impacting patient prognosis.</p><p><strong>Results: </strong>Prior to therapy, the two groups did not differ significantly in Hcy and hs-CRP levels (p > 0.05), whereas after therapy, the levels in both groups dropped significantly (p < 0.01), with more obvious lower levels in the study group (p < 0.05). After treatment, the study group presented significantly higher albumin and prealbumin levels than the control group (p < 0.001). An obvious higher overall response rate was observed in the study group compared to the control group (p = 0.012). No significant inter-group discrepancy was found regarding the total incidence of adverse reactions (p = 0.752). Univariate analysis identified age, course of disease, heart rate (HR), Montreal Cognitive Assessment (MoCA) score, diastolic blood pressure (DBP), systolic blood pressure (SBP), drinking history, as well as medication regimen as risk factors impacting patient prognosis. Multivariate logistic regression analysis identified SBP, DBP, and medication regimen as the independent risk factors.</p><p><strong>Conclusion: </strong>Combined application of donepezil and nimodipine can effectively treat patients with comorbid CSVD and cognitive dysfunction. It can significantly lower the Hcy and hs-CRP levels and improve the nutritional status without increasing the frequency of adverse reactions. In addition, for CSVD patients with cognitive dysfunction, age, course of disease, MoCA score, HR, SBP, DBP, drinking history, and medication regimen are risk factors impacting patient prognosis, while SBP, DBP, and medication regimen are independent risk factors.</p>","PeriodicalId":7251,"journal":{"name":"Actas espanolas de psiquiatria","volume":"52 4","pages":"533-541"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141915892","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}

{"title":"The Incidence and Influencing Factors of Sleep Disorders in Cyber Knife Patients during Treatment.","authors":"Jing Shao, Tongxin Min, Lihui Zhou","doi":"10.62641/aep.v52i4.1799","DOIUrl":"10.62641/aep.v52i4.1799","url":null,"abstract":"<p><strong>Objective: </strong>This study first analyzes the incidence and influencing factors of sleep disorders in Cyber Knife patients during treatment, in order to provide more accurate strategies for clinical prevention, early diagnosis, and treatment.</p><p><strong>Methods: </strong>A total of 101 patients who underwent Cyber Knife treatment at Tumor Diagnosis and Treatment Center, Huashan Hospital Affiliated to Fudan University from April 2022 to April 2023 were selected as the research objects. The Pittsburgh Sleep Quality Index (PSQI) was used for evaluation. Patients with PSQI ≥8 points were included in the occurrence group, and patients with PSQI <8 points were included in the non-occurrence group. The general sociological and disease-related characteristics of the patients, such as education, chemotherapy or targeted therapy, somatic symptoms and other features were collected. χ2 test was performed first to determine the difference between two groups, and Logistic regression analysis was used to identify the predictors of sleep disorders in Cyber Knife patients.</p><p><strong>Results: </strong>A total of 101 Cyber Knife patients were included in this study, of which 43 patients (42.58%) without sleep disorders were included in the non-occurrence group. There were 22 cases (21.78%) of mild disorder, 22 cases (21.78%) of moderate disorder, and 14 cases (13.86%) of severe disorder, all of which were included in the occurrence group. There were significant differences in education level (primary and junior high schools: 32 (55.17%) vs. 15 (34.88%) patients, p = 0.043), family monthly income (≤5000 CNY (1 USD = 6.48 CNY): 36 (62.07%) vs. 15 (34.88%) patients, p = 0.007), somatic symptoms (35 (60.34%) vs. 17 (39.53%) patients, p = 0.038), self-rating anxiety scale (SAS) (>50: 32 (55.17%) vs. 15 (34.88%) patients, p = 0.043), self-rating depression scale (SDS) (>53: 35 (60.34%) vs. 18 (41.86%) patients, p = 0.038), numerical rating scale (NRS) (>3: 30 (51.72%) vs. 13 (30.23%) patients, p = 0.031) between the group of occurrence and no occurrence group. Education level (odds ratio (OR) = 2.845, p = 0.038), somatic symptoms (OR = 2.666, p = 0.048), SAS (OR = 2.889, p = 0.042), SDS (OR = 2.928, p = 0.027) and NRS (OR = 2.981, p = 0.025) had a statistically significant effect on sleep disorders in Cyber Knife patients.</p><p><strong>Conclusions: </strong>Cyber Knife patients are prone to sleep disorders during treatment. It is necessary to pay more attention to and take measures to reduce the occurrence of sleep disorders in clinical practice.</p>","PeriodicalId":7251,"journal":{"name":"Actas espanolas de psiquiatria","volume":"52 4","pages":"512-518"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319757/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141915893","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}

{"title":"The Big Five Personality Traits in Dyslexic Adults: An Exploratory Study.","authors":"Rauni J Roama-Alves, Victória R de A Guimarães, Beatriz G Fonseca, Gabrielle M C de Andrade, Janaína L Duarte, Patrícia A P Crenitte","doi":"10.62641/aep.v52i4.1661","DOIUrl":"10.62641/aep.v52i4.1661","url":null,"abstract":"<p><strong>Background: </strong>Dyslexia is a neurodevelopmental disorder that causes a pattern of learning difficulties that can be characterized by deficits in word reading accuracy, speed or fluency, and reading comprehension. Due to all this damage, emotional difficulties have been described in the literature mainly for childhood and adolescence. Within this emotional component, personality can be included. In Brazil, at the time of carrying out this research, no research had been found that investigated the personality of dyslexic adults. Thus, the present study aimed to investigate the personality of Brazilian adults with dyslexia.</p><p><strong>Methods: </strong>A semi-structured interview was administered and the Factorial Personality Battery, based on the Big Five personality traits. The sample was composed of two groups: one with dyslexia and another control. The first was formed by nine participants, aged between 18 and 47 (M = 31.7; standard deviation (SD) = 11.8), six of whom were women. The control group was formed by 60 participants, aged between 18 and 45 years (M = 26.4; SD = 8.8), 38 of whom were women.</p><p><strong>Results: </strong>The data did not show significant differences between the groups in most of the analyzed factors and subfactors. Increased rates of \"passivity/lack of energy\" and lowered rates of \"openness to new ideas\" were identified in the group with dyslexia.</p><p><strong>Conclusion: </strong>These results could be useful for describing personality profiles in dyslexic adults, with these descriptions possibly providing clinical support for diagnoses and intervention procedures.</p>","PeriodicalId":7251,"journal":{"name":"Actas espanolas de psiquiatria","volume":"52 4","pages":"428-436"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141915880","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}

{"title":"Hand Washing: When Ritual Behavior Protects! Covid-19 Experience in Children and Adolescents with (and without) Obsessive-Compulsive Disorder.","authors":"Francesco Demaria, Maria Pontillo, Stefano Vicari","doi":"10.62641/aep.v52i4.1764","DOIUrl":"10.62641/aep.v52i4.1764","url":null,"abstract":"<p><p>No abstract present.</p>","PeriodicalId":7251,"journal":{"name":"Actas espanolas de psiquiatria","volume":"52 4","pages":"595-597"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141915891","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}

{"title":"NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report.","authors":"Hongli Qi, Dongju Pan, Ying Zhang, Yunhui Zhu, Xie Zhang, Tingting Fu","doi":"10.62641/aep.v52i4.1625","DOIUrl":"10.62641/aep.v52i4.1625","url":null,"abstract":"<p><p>of Medical History: A male infant, 8 months old, was admitted to hospital with cough and fever. The clinical symptoms were found to be mental retardation, obesity, dystonia, movement limitation, and visual retardation. Early development was normal, but after 6 months, the child developed upright head instability, difficulty grasping, and seizures. Symptoms and Signs: The child presents with mental retardation, obesity, increased muscle tone, motor dysfunction, visual impairment, and seizures.</p><p><strong>Diagnosis: </strong>A whole exon test was performed to detect a neurite extension and migration factor (NEXMIF) gene mutation (NM_001008537.2: c.1042C > T (p. Arg348*)), which is known to be associated with intellectual disability and neurological symptoms. In addition, the test revealed a mutation in the Kinase D interacting substrate of 220 kDa (KIDINS220) gene (NM_020738.2: c.3242_3243insC (p. Leu1082AIafs*5)) with a heterozygous mutation in the father and wild type in the mother.</p><p><strong>Treatment: </strong>The patient was treated with anti-infection, aerosol inhalation, calcium supplement, and anti-epileptic drugs (levetiracetam), and the disease was controlled. Home and hospital rehabilitation is also underway.</p><p><strong>Clinical outcome: </strong>The condition of the child improved after treatment and no seizures occurred again. The patient needs continuous rehabilitation treatment and follow-up observation.</p><p><strong>Conclusion: </strong>For male children with unexplained neurodevelopmental disorders and comorbidities such as obesity, dystonia, and seizures, mutations in related genes such as NEXMIF should be considered. Clinical practice should improve genetic testing as early as possible to provide a basis for genetic counseling.</p>","PeriodicalId":7251,"journal":{"name":"Actas espanolas de psiquiatria","volume":"52 4","pages":"588-594"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141915877","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}