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Disease-specific knowledge and differential diagnostic skill in clinical care. 疾病特异性知识和临床护理的鉴别诊断技能。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-11-30 DOI: 10.18071/isz.78.0367
Blanka Bernadett Kasza, Kinga Nákity, Andrea Domján

Background and purpose: Back and neck pain are among the most prevalent musculoskeletal complaints, imposing a substantial individual and societal burden on healthcare systems. Effective management requires adequate education, strong clinical decision-making skills, and accurate interpretation of red flags. This narrative literature review explores the educational, diagnostic, and decision-making aspects of back and neck pain among laypeople, healthcare students, and professionals. It aims to synthesize findings from studies assessing disease-specific knowledge to emphasize how targeted educational programs can enhance students' understanding and, consequently, improve their future clinical practice.

Methods: A thematic analysis of relevant international literature published between 2000 and 2025 was conducted. The review focused on studies examining disease-specific knowledge, differential diagnostic skills, psychosocial factors, and the interpretation of red flags. Findings were organized by target group and summarized narratively.

Results: Across all target groups, substantial gaps were identified in disease-specific knowledge, differential diagnostic competencies, and clinical decision-making skills. While educational interventions demonstra-ted po-sitive effects on knowledge levels and at- titudes, their implementation remains incon- sistent.

Conclusion: Structured, targeted educational programs introduced early in healthcare training can significantly enhance students' disease-specific knowledge. Strengthening differential diagnostic skills, improving red flag interpretation, and integrating evidence-based guidelines are essential for promoting safe, effective, and standardized clinical practice.

背景和目的:背部和颈部疼痛是最常见的肌肉骨骼疾病之一,给医疗保健系统带来了巨大的个人和社会负担。有效的管理需要充分的教育、强大的临床决策技能和对危险信号的准确解释。这篇叙述性文献综述探讨了外行人、卫生保健学生和专业人员对背部和颈部疼痛的教育、诊断和决策方面。它旨在综合评估疾病特异性知识的研究结果,以强调有针对性的教育计划如何提高学生的理解,从而改善他们未来的临床实践。方法:对2000 - 2025年间发表的国际相关文献进行专题分析。该综述侧重于检查疾病特异性知识、鉴别诊断技能、社会心理因素和危险信号解释的研究。研究结果按目标群体进行整理,并进行叙述总结。结果:在所有目标群体中,在疾病特异性知识、鉴别诊断能力和临床决策技能方面存在实质性差距。虽然教育干预显示出对知识水平和态度的积极影响,但其实施仍然不一致。结论:在卫生保健培训中早期引入有组织、有针对性的教育方案,可显著提高学生的疾病特异性知识。加强鉴别诊断技能,改进危险信号解释,整合循证指南对于促进安全、有效和标准化的临床实践至关重要。
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引用次数: 0
[The application of Lee Silverman voice treatment in Parkinson's disease]. 【Lee Silverman声音疗法在帕金森病中的应用】。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-11-30 DOI: 10.18071/isz.78.0425
Renáta Vastag-Gyulyás, Judit Bóna, Katalin Jakab, Péter Klivényi

Background and purpose: Parkinson's disease is a combined motor and nonmotor disorder, including reduced vocal loudness, monotone, slurred speech. The only standardized, evidence-based speech therapy that currently available for people with Parkinson's disease is Lee Silverman Voice Treatment (LSVT).We aimed to present the first results of using LSVT in our country through six case studies.

Methods: Six patients with Parkinson's disease were treated at the Neurorehabilitation Department of Department of Neurology, University of Szeged. The average age of patients was 68 years. The patients' antiparkinsonian medication was not changed during the treatment. Patients received speech therapy 16 times, four times a week for 60 minutes for 4 weeks. Data were collected before and after therapy, following the LSVT Loud examining protocol that involved dictaphone recordings about sustained vowel phonation, pitch changes, reading and conversation. The voice recordings were analysed using Praat software, we annotated the sustained vowel phonations, and the pause-to pause speech segments in the reading and conversation tasks.

Results: Our results show that the quality of speech and the sound pressure level improved in all patients with the LSVT Loud technique.

Conclusion: The prevalence of Parkinson's disease and the changes in speech and voice quality demonstrate the need for expanding the therapeutic options available to manage Parkinson's speech symptoms. In addition to conventional dysarthria therapy, it is recommended to introduce Lee Silverman Voice Treatment (LSVT) into clinical practice, which can significantly improve patients' communication abilities and quality of life. Based on the results, we can say that LSVT can be successfully applied in our country.

背景与目的:帕金森病是一种运动与非运动相结合的疾病,包括声音响亮、声音单调、言语不清。目前唯一可用于帕金森病患者的标准化、循证语言疗法是李·西尔弗曼语音疗法(LSVT)。我们的目标是通过六个案例研究来展示我国使用LSVT的第一批结果。方法:在塞格德大学神经内科神经康复科对6例帕金森病患者进行治疗。患者平均年龄为68岁。在治疗期间,患者的抗帕金森药物没有改变。患者接受言语治疗16次,每周4次,每次60分钟,共4周。在治疗前后收集数据,遵循LSVT Loud检查方案,包括录音机记录持续的元音发音,音高变化,阅读和对话。使用Praat软件对录音进行分析,并对阅读和对话任务中的持续元音发音和停顿到停顿的语音片段进行注释。结果:使用LSVT Loud技术后,所有患者的语音质量和声压级均有改善。结论:帕金森病的患病率以及言语和语音质量的变化表明,需要扩大治疗选择,以控制帕金森言语症状。在常规构音障碍治疗的基础上,建议将Lee Silverman Voice Treatment (LSVT)引入临床,可显著提高患者的沟通能力和生活质量。结果表明,LSVT在我国的应用是成功的。
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引用次数: 0
[Hungarian adaptation of the Suicide Behaviors Questionnaire Revised]. [自杀行为问卷匈牙利版修订版]。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-11-30 DOI: 10.18071/isz.78.0375
Melinda Reinhardt, Hunor Girasek, Alexandra Soós, Zsolt Horváth, Gábor Gazdag

Background and purpose: Previous suicidal intent and attempt(s) are strong risk factors for current suicidal behaviour. In psy- chiatric practice, however, there are few self-report-based suicide risk assessment measures that can cover the past suicidal spectrum from multiple aspects and identify a cut-off point for suicidal risk. Our aim was therefore to introduce the Suicide Behaviors Questionnaire Revised (SBQ-R) into the Hungarian test battery.

Methods: In our cross-sectional questionnaire study, 229 hospitalized adult psychiatric patients (mean age = 41.64 ys; SD = 14.41; 56.3% female) participated. Beside the SBQ-R, the Rihmer's Brief Suicide Questionnaire, 6-item version, the Beck Hopelessness Scale and the Minnesota Multiphasic Persona-lity Inventory-2 (MMPI-2) clinical personality questionnaire were completed.

Results: We confirmed the single-factor structure of the SBQ-R with excellent model fit indices in a Hungarian sample. The reliability of the questionnaire is adequate and its construct validity is optimal: it shows moderate to strong correlations with other measures of the suicide spectrum, with hopelessness and with the clinical scales of the MMPI-2. The cut-off point for suicidal risk was set at 7 points, broadly in line with international studies; patients at or above this value are 9 times more likely to have an expressed suicide risk. Hopelesness increases by 13.5% the possibility of the high-risk group membership based on the SBQ-R, while previous suicidal act(s) increase this odds five times higher.

Conclusion: The self-report-based SBQ-R is a reliable, valid, multi-faceted assessment of suicidal behaviour and an effective tool for screening suicidal risk.

背景和目的:以前的自杀意图和企图是当前自杀行为的强烈危险因素。然而,在精神病学实践中,很少有基于自我报告的自杀风险评估方法可以从多个方面涵盖过去的自杀谱,并确定自杀风险的分界点。因此,我们的目的是将自杀行为问卷修订(SBQ-R)引入匈牙利测试电池。方法:采用横断面问卷调查法,对229例住院成人精神病患者(平均年龄41.64岁,SD = 14.41,女性56.3%)进行调查。除SBQ-R外,还完成了Rihmer自杀简易问卷(6项)、Beck绝望量表和明尼苏达多相人格量表-2 (MMPI-2)临床人格问卷。结果:我们在匈牙利样本中证实了SBQ-R的单因素结构,模型拟合指数很好。问卷的信度是足够的,其结构效度是最佳的:它显示出中等到强的相关性与其他测量自杀谱,绝望和临床量表的MMPI-2。自杀风险的分界点设定为7点,与国际研究基本一致;达到或高于此值的患者表达自杀风险的可能性高出9倍。根据SBQ-R,绝望使高风险群体成员的可能性增加13.5%,而先前的自杀行为使这一可能性增加5倍。结论:基于自我报告的SBQ-R是一种可靠、有效、多方面的自杀行为评估方法,是筛查自杀风险的有效工具。
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引用次数: 0
Retrospective evaluation of children under five years of age with head injuries: Single center experience. 5岁以下儿童头部损伤的回顾性评价:单中心经验。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-11-30 DOI: 10.18071/isz.78.0407
Mehmet Kilic, Atakan Besnek, Halil Aslan, İhsan Yildirim, Bariş Erdogan

Background and purpose: Head trauma is one of the leading causes of morbidity and mortality in childhood and can lead to traumatic brain injury (TBI). In our study, we present a retrospective analysis of the clinical and radiological findings of patients presenting with head trauma in 0-5 age range, examining the relationship between pediatric skull and brain development and age-related changes in trauma mechanisms. The study aims to evaluate the clinical characteristics and injury mechanisms in young children with head trauma, providing insights for improved management strategies tailored to this vulnerable population.

Methods: The study assessed patients who presented to Şanliurfa Education and Research Hospital between January 1, 2016, and January 1, 2022. The clinical and radiological data of 1216 patients aged 5 years and younger who were admitted due to head trauma were analyzed. Symptoms, physical examination findings, trauma mechanisms, and CT findings were evaluated for each age group.

Results: Among the included 1216 patients 62.9% (n=765) were male and 37.1% (n=451) were female. The incidence of scalp hematoma showed a significant difference in the 0-1 and 1-2 age groups (p.

Conclusion: The findings of this study reveal distinct differences in head trauma presentations among the various age groups, indicating that younger children experience different trauma mechanisms and types of injuries compared to older children. Recognizing these differences is crucial for tailoring prevention strategies and therapeutic interventions, allowing for more effective management of head trauma in pediatric patients. This study emphasizes the significance of analyzing head trauma in rapidly developing age groups. The observed variations in trauma mechanisms and clinical findings necessitate age-specific approaches in patient management, which can ultimately enhance treatment outcomes for young patients suffering from head trauma.

背景和目的:头部创伤是儿童发病和死亡的主要原因之一,并可导致创伤性脑损伤(TBI)。在我们的研究中,我们回顾性分析了0-5岁范围内头部创伤患者的临床和影像学表现,探讨了儿童颅骨和大脑发育与年龄相关的创伤机制变化之间的关系。该研究旨在评估幼儿头部创伤的临床特征和损伤机制,为针对这一弱势群体的改进管理策略提供见解。方法:研究评估了2016年1月1日至2022年1月1日期间在Şanliurfa教育与研究医院就诊的患者。对1216例5岁及以下颅脑外伤患者的临床及影像学资料进行分析。对每个年龄组的症状、体格检查结果、创伤机制和CT表现进行评估。结果:1216例患者中,男性765例,占62.9%,女性451例,占37.1%。头皮血肿的发生率在0-1岁和1-2岁年龄组之间存在显著差异(p.结论:本研究结果揭示了不同年龄组儿童头部外伤表现的显著差异,表明低龄儿童与大龄儿童相比经历了不同的创伤机制和损伤类型。认识到这些差异对于制定预防策略和治疗干预措施至关重要,从而可以更有效地管理儿科患者的头部创伤。本研究强调分析快速发展年龄组头部创伤的重要性。观察到的创伤机制和临床结果的差异需要在患者管理中采用针对年龄的方法,这最终可以提高年轻头部创伤患者的治疗效果。
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引用次数: 0
Adaptive and terminal endoplasmic reticulum stress genes methylation levels in Parkinson patients' peripheral blood. 帕金森患者外周血适应性和终末内质网应激基因甲基化水平。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-11-30 DOI: 10.18071/isz.78.0417
Yagmur Inalkac Gemici, Muhammed Dundar, Harika Gozde Gozukara, Ahmet Koc

Background and purpose: Misfolded protein stress has come to the fore among the molecular mechanisms that can cause degeneration. Whereas one of the most important protein of adaptive Endoplasmic Reticulum stress (ERS) is XBP1, CHOP and ASK proteins are associated with apoptosis and terminal ERS. To the best of our knowledge, methylation levels of adaptive and terminal ERS genes in Parkinson's Disease (PD) patients' blood are unknown. We aimed to evaluate if there is a difference in the DNA methylation levels of the ERS related protein-coding genes in peripheral blood of PD patients compared with healthy controls. The clinical significance of these gene methylation levels was evaluated as the second aim.

Methods: DNA was isolated from the blood of PD patients (n=23) and controls (n=19). We used a methylation-specific qPCR approach to assess the methylation status of the ERS genes. The correlation between clinical findings and the methylation levels in PD patients were evaluated with appropriate statistical methods.

Results: Terminal ERS related genes were statistically significantly hypomethylated in PD (ASK1 p=0.020, and CHOP p.

Conclusion: PD patients' peripheral blood methylation levels of adaptive and terminal ERS related genes are significantly different from healthy controls'. While XBP1 is known to be neuroprotective, CHOP and ASK are important proteins in apoptosis, and their methylation differences in peripheral blood provide a clue that they could be used as biomarkers in the future. Therefore, further biomarker and treatment studies should be conducted on these proteins and their pathways.

背景与目的:错误折叠的蛋白应激在导致变性的分子机制中已成为重要的研究对象。适应性内质网应激(adaptive Endoplasmic Reticulum stress, ERS)中最重要的蛋白之一是XBP1,而CHOP和ASK蛋白则与细胞凋亡和终末内质网应激相关。据我们所知,帕金森病(PD)患者血液中适应性和终末ERS基因的甲基化水平尚不清楚。我们的目的是评估PD患者外周血中ERS相关蛋白编码基因的DNA甲基化水平与健康对照组相比是否存在差异。评估这些基因甲基化水平的临床意义是第二个目的。方法:从PD患者(n=23)和对照组(n=19)的血液中分离DNA。我们使用甲基化特异性qPCR方法来评估ERS基因的甲基化状态。采用适当的统计学方法评估PD患者的临床表现与甲基化水平之间的相关性。结果:PD患者外周血适应性和终末ERS相关基因甲基化水平与健康对照组相比存在显著差异(ASK1 p=0.020, CHOP p=0.020)。虽然已知XBP1具有神经保护作用,但CHOP和ASK在细胞凋亡中是重要的蛋白,它们在外周血中的甲基化差异为它们将来可作为生物标志物提供了线索。因此,应该对这些蛋白及其通路进行进一步的生物标志物和治疗研究。
{"title":"Adaptive and terminal endoplasmic reticulum stress genes methylation levels in Parkinson patients' peripheral blood.","authors":"Yagmur Inalkac Gemici, Muhammed Dundar, Harika Gozde Gozukara, Ahmet Koc","doi":"10.18071/isz.78.0417","DOIUrl":"https://doi.org/10.18071/isz.78.0417","url":null,"abstract":"<p><strong>Background and purpose: </strong>Misfolded protein stress has come to the fore among the molecular mechanisms that can cause degeneration. Whereas one of the most important protein of adaptive Endoplasmic Reticulum stress (ERS) is XBP1, CHOP and ASK proteins are associated with apoptosis and terminal ERS. To the best of our knowledge, methylation levels of adaptive and terminal ERS genes in Parkinson's Disease (PD) patients' blood are unknown. We aimed to evaluate if there is a difference in the DNA methylation levels of the ERS related protein-coding genes in peripheral blood of PD patients compared with healthy controls. The clinical significance of these gene methylation levels was evaluated as the second aim.</p><p><strong>Methods: </strong>DNA was isolated from the blood of PD patients (n=23) and controls (n=19). We used a methylation-specific qPCR approach to assess the methylation status of the ERS genes. The correlation between clinical findings and the methylation levels in PD patients were evaluated with appropriate statistical methods.</p><p><strong>Results: </strong>Terminal ERS related genes were statistically significantly hypomethylated in PD (ASK1 p=0.020, and CHOP p.</p><p><strong>Conclusion: </strong>PD patients' peripheral blood methylation levels of adaptive and terminal ERS related genes are significantly different from healthy controls'. While XBP1 is known to be neuroprotective, CHOP and ASK are important proteins in apoptosis, and their methylation differences in peripheral blood provide a clue that they could be used as biomarkers in the future. Therefore, further biomarker and treatment studies should be conducted on these proteins and their pathways.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 11-12","pages":"417-423"},"PeriodicalIF":0.6,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145649728","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: 0
[Neuromyelitis optica spectrum disorder: new international recommendations and emerging therapeutic options; current status of domestic practice in diagnostics and therapeutic strategies]. 视神经脊髓炎谱系障碍:新的国际建议和新兴的治疗方案;诊断和治疗策略的国内实践现状[j]。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-09-30 DOI: 10.18071/isz.78.0295
Cecília Rajda

Neuromyelitis optica spectrum disorder is a rare neuroimmunological disease associated with unpredictable deterioration. Even the first signs of the disease can be severe enough to lead to permanent neurological impairment, such as loss of vision or paralysis. Early symptoms can often be mistaken for another disease, leaving patients bouncing between several specialists, leading to diagnostic delay. Early detection of the disease can save lives and quality of life, as appropriate therapy started early can prevent neurologically debilitating deterioration. In Hungary, the "off label" rituximab has so far been given a facilitated procedure for therapy, while evidence-based medicines are not yet available to us.

视神经脊髓炎是一种罕见的神经免疫疾病,伴有不可预测的恶化。即使是这种疾病的最初迹象也可能严重到足以导致永久性的神经损伤,如视力丧失或瘫痪。早期症状往往会被误认为是另一种疾病,让患者在几个专家之间来回奔波,导致诊断延误。早期发现这种疾病可以挽救生命和提高生活质量,因为早期开始的适当治疗可以防止神经衰弱性恶化。在匈牙利,“标签外”的利妥昔单抗迄今已获得一种便利的治疗程序,而我们尚未获得循证药物。
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引用次数: 0
Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Northern-Cyprus population. 通过定量分析北塞浦路斯人群中SMN1缺失的SMA携带者频率。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-09-30 DOI: 10.18071/isz.78.0349
Sara Abbasigharaei, Aysegul Bostanci, Kiana Tabari, Mahmut Cerkez Ergoren

Background and purpose: Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder, affecting approximately one out of 10,000 live births. Muscular atrophy is caused by the gradual loss of alpha motor neurons within the ventral spinal cord or motor nuclei in the lower brainstem. In this study, we aimed to evaluate the carrier frequency of SMN1 gene mutation causing SMA in the Turkish Cypriot population.

Methods: This is the first study to evaluate the SMN1 deletion mutations in this population. Exon 7 and 8 deletions of the SMN1 gene, and c.849C/T substitution within exon 7 were detected by Quantitative Real-Time PCR (RT-qPCR) method.

Results: In a total of 100 individuals, 3 patients turned out to be carriers of the pathogenic SMN1 gene variant in both exon 7 and 8 (carrier status type 1) and another patient (Carrier status type 2) showed a car- rier status of SMN1 gene only in exon 7. Our findings revealed that the carrier frequency of mutation in the SMN1 gene exon 7 is 4% (4:100 healthy individuals) while for exon 8 is 3% (3:100 healthy individuals). In conclusion, health precautions must be taken due to the high frequency of SMA linked to the deletion of the SMN1 gene.

Conclusion: Carrier testing as a technique for genetic counseling may be advantageous for individuals with a positive family history or can even be a useful test in a society with a high prevalence of this disease. For this population, we strongly recommend prenatal testing. The Ministry of Health has received our findings, and they will decide whether to include tests for the SMN1 gene variant in premarital examinations.

背景和目的:脊髓性肌萎缩症(SMA)是一种罕见的常染色体隐性神经肌肉疾病,大约每10000个活产婴儿中就有一个患病。肌肉萎缩是由脊髓腹侧的α运动神经元或脑干下部的运动核逐渐丧失引起的。在这项研究中,我们旨在评估导致土族塞人SMA的SMN1基因突变的携带者频率。方法:这是第一个评估该人群中SMN1缺失突变的研究。采用实时荧光定量PCR (RT-qPCR)方法检测SMN1基因外显子7和8缺失,以及外显子7内c.849C/T的替换。结果:在100例患者中,3例患者在第7和第8外显子均携带致病SMN1基因变异(携带者状态为1型),另1例患者(携带者状态为2型)仅在第7外显子携带SMN1基因。我们的研究结果显示,SMN1基因外显子7的突变载体频率为4%(4:100健康个体),而外显子8的突变载体频率为3%(3:100健康个体)。总之,由于与SMN1基因缺失相关的SMA的高频率,必须采取健康预防措施。结论:携带者检测作为一种遗传咨询技术,对有阳性家族史的个体可能是有利的,甚至在该病高发的社会中也是一种有用的检测方法。对于这类人群,我们强烈建议进行产前检查。卫生部已收到我们的调查结果,他们将决定是否在婚前检查中包括SMN1基因变异的检测。
{"title":"Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Northern-Cyprus population.","authors":"Sara Abbasigharaei, Aysegul Bostanci, Kiana Tabari, Mahmut Cerkez Ergoren","doi":"10.18071/isz.78.0349","DOIUrl":"https://doi.org/10.18071/isz.78.0349","url":null,"abstract":"<p><strong>Background and purpose: </strong>Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder, affecting approximately one out of 10,000 live births. Muscular atrophy is caused by the gradual loss of alpha motor neurons within the ventral spinal cord or motor nuclei in the lower brainstem. In this study, we aimed to evaluate the carrier frequency of SMN1 gene mutation causing SMA in the Turkish Cypriot population.</p><p><strong>Methods: </strong>This is the first study to evaluate the SMN1 deletion mutations in this population. Exon 7 and 8 deletions of the SMN1 gene, and c.849C/T substitution within exon 7 were detected by Quantitative Real-Time PCR (RT-qPCR) method.</p><p><strong>Results: </strong>In a total of 100 individuals, 3 patients turned out to be carriers of the pathogenic SMN1 gene variant in both exon 7 and 8 (carrier status type 1) and another patient (Carrier status type 2) showed a car- rier status of SMN1 gene only in exon 7. Our findings revealed that the carrier frequency of mutation in the SMN1 gene exon 7 is 4% (4:100 healthy individuals) while for exon 8 is 3% (3:100 healthy individuals). In conclusion, health precautions must be taken due to the high frequency of SMA linked to the deletion of the SMN1 gene.</p><p><strong>Conclusion: </strong>Carrier testing as a technique for genetic counseling may be advantageous for individuals with a positive family history or can even be a useful test in a society with a high prevalence of this disease. For this population, we strongly recommend prenatal testing. The Ministry of Health has received our findings, and they will decide whether to include tests for the SMN1 gene variant in premarital examinations.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 9-10","pages":"349-355"},"PeriodicalIF":0.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145201958","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: 0
[Results in our symptomatic and presymptomatic SMA patients treated with disease-modifying therapy]. [结果在我们的症状性和症状前SMA患者接受疾病改善治疗]。
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-09-30 DOI: 10.18071/isz.78.0319
Borbála Mikos, Lejla Vendégh, Bernadett Biró, Annamária Vicze, Orsolya Dér, Veronika Keszthelyi, Boglárka Petrik-Laky, Réka Ehrenberger, Rita Jakus, Tímea Bodó, Barbara Patócs, György János Velkey
<p><strong>Background and purpose: </strong>The aim of this study was the comparison of the movement development, instrumental breathing and feeding support, and hospital care needs of children with SMA (spinal muscular atrophy) who received disease-modifying therapy in the presymptomatic and symptomatic stages.</p><p><strong>Methods: </strong>At the Bethesda Children's Hospital, between October 2019 and March 2024, the pre- and post-treatment condition of children receiving disease-modifying therapy for SMA, both in symptomatic and presymptomatic stages, was examined based on ret- rospective data collection and statistical analysis.</p><p><strong>Results: </strong>During the examined period, 34 children received gene replacement treatment for SMA. In the 28 patients of group I, SMA was diagnosed based on symptoms at an average age of 7.47 (1.6-27) months, and their disease-modifying therapy began at 9.51 (2.0-31.0) months of age. In the II. group 6 patients were diagnosed with neonatal SMA screening at an average age of 15.83 (10-27) and therapy at 32.16 (22-48) days of age. Based on the health assessment conducted at the age of 3.08 (0.34-5.65), the number of patients requiring daily respiratory support did not change, the number of those requiring ventilation for each sleep was reduced by half, and the ability to swallow returned to 3 patients. The previously existing movement deficit in all patients showed partial improvement in 22 (78.57%) children, stagnated in 4 patients, and progressed in 2 children. The scale measuring the movement spectrum of patients unable to sit increased by an average of 14.62 (6-29) points. The scale examining children who are able to sit could be examined in 7 patients before therapy and in 16 patients during control; average increased by 8.36 (2-45) points. 39.28% of the patients (n = 11) requested hospital care a total of 31 times due to acute deterioration. One patient died at home at the age of 3.2 years (22 months after gene therapy). The 6 patients of the II. group at an average age of 0.88 (0.25-1.07) did not require instrumental breathing and/or feeding support, the movement development of the five 3 SMN (Survival Motor Neuron)2-copy patients followed that of their healthy peers. A newborn with 2 copies of SMN2, starting with a score of 54, had slower motor development and a 6-point increase, unable to sit independently at one year of age.</p><p><strong>Conclusion: </strong>The diagnosis of SMA should be considered as a neurological emergency both from the point of view of diagnosis and initiation of therapy. The only way to prevent progression and irreversible loss of function is automatic screening of the disease for the entire newborn population and early treatment. The absence of symptoms or only minimally suboptimal development achieved through early diagnosis and disease-modifying therapy, a lifestyle that is not confined to bed, and technology independence are health benefits for the individual, fam
背景和目的:本研究的目的是比较在症状前和症状期接受疾病改善治疗的脊髓性肌萎缩症(SMA)儿童的运动发展、辅助呼吸和喂养支持以及医院护理需求。方法:2019年10月至2024年3月,在Bethesda儿童医院,通过回顾性数据收集和统计分析,对接受SMA疾病改善治疗的儿童在症状期和症状前阶段的治疗前后情况进行检查。结果:在检查期间,34名儿童接受了SMA基因替代治疗。在I组28例患者中,根据症状诊断SMA的平均年龄为7.47(1.6-27)个月,他们的疾病改善治疗开始于9.51(2.0-31.0)个月。在II。第6组患者在平均年龄15.83(10-27)天时接受新生儿SMA筛查,在32.16(22-48)天时接受治疗。根据3.08(0.34-5.65)岁时进行的健康评估,每天需要呼吸支持的患者数量没有变化,每次睡眠需要通气的患者数量减少了一半,吞咽能力恢复到3例。所有患者先前存在的运动缺陷22例(78.57%)患儿部分改善,4例患儿停滞不前,2例患儿进展。不能坐的患者运动谱量表平均增加14.62(6-29)分。治疗前和对照组分别有7例和16例患儿使用了能坐的量表;平均上涨8.36(2-45)点。39.28%的患者(n = 11)因急性恶化要求住院治疗共31次。1例患者在3.2岁(基因治疗后22个月)时在家中死亡。6例ⅱ。平均年龄为0.88岁(0.25-1.07)的患者不需要辅助呼吸和/或喂养支持,5名3 SMN(存活运动神经元)2拷贝患者的运动发育与健康同龄人相同。携带2份SMN2基因的新生儿,从54分开始,运动发育较慢,增加6分,在1岁时不能独立坐着。结论:无论从诊断还是开始治疗的角度来看,SMA的诊断都应视为神经系统急症。预防进展和不可逆转的功能丧失的唯一方法是对整个新生儿群体进行疾病自动筛查和早期治疗。通过早期诊断和疾病改善治疗,没有症状或只有最低限度的次优发展,不局限于床上的生活方式,以及技术独立,对个人、家庭和社会都有健康益处。无论从诊断还是开始治疗的角度来看,SMA的诊断都应被视为神经系统急症。预防进展和不可逆转的功能丧失的唯一方法是对整个新生儿群体进行疾病自动筛查和早期治疗。通过早期诊断和疾病改善治疗,没有症状或只有最低限度的次优发展,不局限于床上的生活方式,以及技术独立,对个人、家庭和社会都有健康益处。
{"title":"[Results in our symptomatic and presymptomatic SMA patients treated with disease-modifying therapy].","authors":"Borbála Mikos, Lejla Vendégh, Bernadett Biró, Annamária Vicze, Orsolya Dér, Veronika Keszthelyi, Boglárka Petrik-Laky, Réka Ehrenberger, Rita Jakus, Tímea Bodó, Barbara Patócs, György János Velkey","doi":"10.18071/isz.78.0319","DOIUrl":"https://doi.org/10.18071/isz.78.0319","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background and purpose: &lt;/strong&gt;The aim of this study was the comparison of the movement development, instrumental breathing and feeding support, and hospital care needs of children with SMA (spinal muscular atrophy) who received disease-modifying therapy in the presymptomatic and symptomatic stages.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;At the Bethesda Children's Hospital, between October 2019 and March 2024, the pre- and post-treatment condition of children receiving disease-modifying therapy for SMA, both in symptomatic and presymptomatic stages, was examined based on ret- rospective data collection and statistical analysis.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;During the examined period, 34 children received gene replacement treatment for SMA. In the 28 patients of group I, SMA was diagnosed based on symptoms at an average age of 7.47 (1.6-27) months, and their disease-modifying therapy began at 9.51 (2.0-31.0) months of age. In the II. group 6 patients were diagnosed with neonatal SMA screening at an average age of 15.83 (10-27) and therapy at 32.16 (22-48) days of age. Based on the health assessment conducted at the age of 3.08 (0.34-5.65), the number of patients requiring daily respiratory support did not change, the number of those requiring ventilation for each sleep was reduced by half, and the ability to swallow returned to 3 patients. The previously existing movement deficit in all patients showed partial improvement in 22 (78.57%) children, stagnated in 4 patients, and progressed in 2 children. The scale measuring the movement spectrum of patients unable to sit increased by an average of 14.62 (6-29) points. The scale examining children who are able to sit could be examined in 7 patients before therapy and in 16 patients during control; average increased by 8.36 (2-45) points. 39.28% of the patients (n = 11) requested hospital care a total of 31 times due to acute deterioration. One patient died at home at the age of 3.2 years (22 months after gene therapy). The 6 patients of the II. group at an average age of 0.88 (0.25-1.07) did not require instrumental breathing and/or feeding support, the movement development of the five 3 SMN (Survival Motor Neuron)2-copy patients followed that of their healthy peers. A newborn with 2 copies of SMN2, starting with a score of 54, had slower motor development and a 6-point increase, unable to sit independently at one year of age.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;The diagnosis of SMA should be considered as a neurological emergency both from the point of view of diagnosis and initiation of therapy. The only way to prevent progression and irreversible loss of function is automatic screening of the disease for the entire newborn population and early treatment. The absence of symptoms or only minimally suboptimal development achieved through early diagnosis and disease-modifying therapy, a lifestyle that is not confined to bed, and technology independence are health benefits for the individual, fam","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 9-10","pages":"319-329"},"PeriodicalIF":0.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145201588","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: 0
Do nerve blocks boost mood and functional activity in patients with chronic migraine and medication overuse headache? 神经阻滞是否能改善慢性偏头痛和药物过度使用性头痛患者的情绪和功能活动?
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-09-30 DOI: 10.18071/isz.78.0339
Ahmet Basari, Gökhan Pek, Ibrahim Asik

Background and purpose: Chronic migraine (CM) and medication overuse headache (MOH) present significant therapeutic challenges, often accompanied by mood disturbances and functional impairment. Although prophylactic drug therapies remain essential, adjunct interventions such as Greater Occipital Nerve (GON) and Supraorbital Nerve (SON) blocks may offer additional benefits. This study aimed to assess whether adding these nerve blocks to standard medication prophylaxis could improve mood and functionality in patients diagnosed with CM or MOH.

Methods: A retrospective analysis was conducted on 147 patients (131 females, 16 males) treated between December 2020 and March 2021. The patients were divided into three groups: prophylactic pharmacotreatment alone, prophylactic treatment with GON block, and prophylactic treatment with combined GON and SON blocks. Following this, pain and functionality metrics were assessed using Visual Analog Scale (VAS), Migraine Disability Assessment Scale (MIDAS) and Beck Depression Inventory (BDI) scores. Statistical analyses utilized the Statistical Package for the Social Sciences (SPSS) and R software for non-parametric longitudinal data evaluation.

Results: Among the 147 patients analysed for this study, GON + SON blocks significantly reduced VAS scores from week 2 onwards (Mann-Whitney U test p = 0.021), demonstrating faster improvement compared to other treatment groups. MIDAS scores significantly improved across all groups, with the combined GON + SON blocks show- ing the most pronounced reduction (Wald Time Statistic [WTS] = 1262.52, p < 0.01). BDI scores decreased significantly over time (WTS = 997.89, p < 0.01), though no treatment-specific superiority was observed. Minimal and manageable minor complications were reported, confirming procedural safety.

Conclusion: Adding GON and SON blocks to prophylactic drug treatment enhances pain reduction and functionality in CM and MOH patients. Combined blocks yield faster, significant benefits, with VAS improvements from the second week. BDI scores improved across all groups, though mood-related gains require further study. In the future multicenter randomized controlled trials are needed.

背景和目的:慢性偏头痛(CM)和药物过度使用性头痛(MOH)通常伴有情绪障碍和功能障碍,是治疗上的重大挑战。虽然预防性药物治疗仍然是必要的,辅助干预,如枕大神经(GON)和眶上神经(SON)阻滞可能提供额外的好处。本研究旨在评估在标准药物预防中加入这些神经阻滞是否可以改善诊断为CM或MOH的患者的情绪和功能。方法:回顾性分析2020年12月至2021年3月期间收治的147例患者(女性131例,男性16例)。将患者分为单独预防性药物治疗组、预防性治疗联合GON阻断组和预防性治疗联合GON和SON阻断组。随后,使用视觉模拟量表(VAS)、偏头痛残疾评估量表(MIDAS)和贝克抑郁量表(BDI)评分对疼痛和功能指标进行评估。统计分析使用社会科学统计软件包(SPSS)和R软件进行非参数纵向数据评估。结果:在本研究分析的147例患者中,从第2周开始,GON + SON阻断显著降低了VAS评分(Mann-Whitney U检验p = 0.021),与其他治疗组相比,显示出更快的改善。MIDAS评分在所有组中均有显著改善,其中GON + SON联合评分降低最为明显(Wald Time Statistic [WTS] = 1262.52, p < 0.01)。BDI评分随时间显著下降(WTS = 997.89, p < 0.01),但没有观察到治疗特异性的优势。报告了最小和可控制的轻微并发症,证实了手术安全性。结论:在预防性药物治疗中加入GON和SON阻断剂可增强CM和MOH患者的疼痛减轻和功能。联合阻滞产生更快,显著的效益,VAS从第二周开始改善。所有小组的BDI得分都有所提高,但与情绪相关的提高需要进一步研究。未来需要多中心随机对照试验。
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引用次数: 0
[The impact of Leary's interpersonal relationships and attachment styles in the background of suicide attempts in borderline personality disorder]. 边缘型人格障碍自杀未遂背景下Leary人际关系和依恋类型的影响
IF 0.6 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-09-30 DOI: 10.18071/isz.78.0307
Laura Csizmadia, Ágoston Schmelowszky, Noémi Mónika Szeifert

Background and purpose: Nowadays ever more studies are devoted to the causes and background of suicide attempts by psychiatric patients. The research results so far show that the motivations behind borderline suicidality are also closely related to attachment patterns. In addition, many investigations are also directed at the disturbance of interpersonal relationships in this context. Recently, the examination of the disturbance of interpersonal relations as a risk factor has received significant emphasis. The present research aims to explore the mediating effect of Leary's interpersonal relationships in relation to attachment styles and suicidality in borderline personality disorder.

Methods: Our compiled questionnaire package was administered in the form of a paper-and-pencil test at the Traumatology Center, Crisis Intervention and Psychiatry Department, Toxicology Department and Crisis Ambulance of Péterfy Sándor Hospital with a sample of borderline patients (N = 213; 155 female, 58 male; M age = 38.16, SD age = 13.40) who underwent suicide attempts. Attachment styles were defined by the Relationship Scales Questionnaire (RSQ) and the Adult Attachment Scale (AAS), while the interpersonal relationships were assessed using Leary's Interpersonal Checklist. We tested the direct and indirect effects between the variables using structural path analysis.

Results: All attachment forms had a significant direct effect on the Managerial-Autocratic (AP) category (secure: ß = 0.32; p < 0.5; preoccupied: ß = 0.53; p < 0.5; dismissing: ß = 0.34; p.

Conclusion: In the background of the development of borderline suicidality, the disturbance of interpersonal relationships, especially the Rebellious-Distrustful (FG) category, and the risk factors behind suicidal behavior have a stronger efficacy than the attachment styles themselves. Attachment forms can exert their influence on borderline suicidality through mediating effect of interpersonal relationships.

背景和目的:目前越来越多的研究致力于精神病人自杀企图的原因和背景。迄今为止的研究结果表明,边缘性自杀背后的动机也与依恋模式密切相关。此外,许多调查也针对在这种情况下的人际关系的干扰。最近,人际关系障碍作为一种危险因素的研究受到了极大的重视。本研究旨在探讨边缘型人格障碍患者Leary人际关系对依恋类型和自杀行为的中介作用。方法:在psamterfy Sándor医院创伤中心、危机干预与精神科、毒理科和危重救护中心,以纸笔测试的形式对有自杀企图的边缘型患者(N = 213,女性155,男性58,M = 38.16, SD = 13.40)进行问卷调查。依恋类型采用关系量表(RSQ)和成人依恋量表(AAS)进行定义,人际关系采用Leary人际关系量表进行评估。我们使用结构路径分析测试了变量之间的直接和间接影响。结果:所有依恋类型对管理-专制(AP)类别(secure: ß = 0.32; p < 0.5;全神贯注:ß = 0.53; p < 0.5; dismissing: ß = 0.34)均有显著的直接影响。结论:在边缘型自杀倾向发展的背景下,人际关系的干扰,尤其是叛逆-不信任(FG)类别和自杀行为背后的危险因素的影响比依恋类型本身更强。依恋形式通过人际关系的中介作用对边缘性自杀行为产生影响。
{"title":"[The impact of Leary's interpersonal relationships and attachment styles in the background of suicide attempts in borderline personality disorder].","authors":"Laura Csizmadia, Ágoston Schmelowszky, Noémi Mónika Szeifert","doi":"10.18071/isz.78.0307","DOIUrl":"https://doi.org/10.18071/isz.78.0307","url":null,"abstract":"<p><strong>Background and purpose: </strong>Nowadays ever more studies are devoted to the causes and background of suicide attempts by psychiatric patients. The research results so far show that the motivations behind borderline suicidality are also closely related to attachment patterns. In addition, many investigations are also directed at the disturbance of interpersonal relationships in this context. Recently, the examination of the disturbance of interpersonal relations as a risk factor has received significant emphasis. The present research aims to explore the mediating effect of Leary's interpersonal relationships in relation to attachment styles and suicidality in borderline personality disorder.</p><p><strong>Methods: </strong>Our compiled questionnaire package was administered in the form of a paper-and-pencil test at the Traumatology Center, Crisis Intervention and Psychiatry Department, Toxicology Department and Crisis Ambulance of Péterfy Sándor Hospital with a sample of borderline patients (N = 213; 155 female, 58 male; M age = 38.16, SD age = 13.40) who underwent suicide attempts. Attachment styles were defined by the Relationship Scales Questionnaire (RSQ) and the Adult Attachment Scale (AAS), while the interpersonal relationships were assessed using Leary's Interpersonal Checklist. We tested the direct and indirect effects between the variables using structural path analysis.</p><p><strong>Results: </strong>All attachment forms had a significant direct effect on the Managerial-Autocratic (AP) category (secure: ß = 0.32; p < 0.5; preoccupied: ß = 0.53; p < 0.5; dismissing: ß = 0.34; p.</p><p><strong>Conclusion: </strong>In the background of the development of borderline suicidality, the disturbance of interpersonal relationships, especially the Rebellious-Distrustful (FG) category, and the risk factors behind suicidal behavior have a stronger efficacy than the attachment styles themselves. Attachment forms can exert their influence on borderline suicidality through mediating effect of interpersonal relationships.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 9-10","pages":"307-317"},"PeriodicalIF":0.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145201912","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}
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Ideggyogyaszati Szemle-Clinical Neuroscience
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