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.
{"title":"Disease-specific knowledge and differential diagnostic skill in clinical care.","authors":"Blanka Bernadett Kasza, Kinga Nákity, Andrea Domján","doi":"10.18071/isz.78.0367","DOIUrl":"https://doi.org/10.18071/isz.78.0367","url":null,"abstract":"<p><strong>Background and purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 11-12","pages":"367-374"},"PeriodicalIF":0.6,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145649761","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}
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.
{"title":"[The application of Lee Silverman voice treatment in Parkinson's disease].","authors":"Renáta Vastag-Gyulyás, Judit Bóna, Katalin Jakab, Péter Klivényi","doi":"10.18071/isz.78.0425","DOIUrl":"10.18071/isz.78.0425","url":null,"abstract":"<p><strong>Background and purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>Our results show that the quality of speech and the sound pressure level improved in all patients with the LSVT Loud technique.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 11-12","pages":"425-431"},"PeriodicalIF":0.6,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145649750","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}
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.
{"title":"[Hungarian adaptation of the Suicide Behaviors Questionnaire Revised].","authors":"Melinda Reinhardt, Hunor Girasek, Alexandra Soós, Zsolt Horváth, Gábor Gazdag","doi":"10.18071/isz.78.0375","DOIUrl":"https://doi.org/10.18071/isz.78.0375","url":null,"abstract":"<p><strong>Background and purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>The self-report-based SBQ-R is a reliable, valid, multi-faceted assessment of suicidal behaviour and an effective tool for screening suicidal risk.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 11-12","pages":"375-387"},"PeriodicalIF":0.6,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145649754","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}
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.
{"title":"Retrospective evaluation of children under five years of age with head injuries: Single center experience.","authors":"Mehmet Kilic, Atakan Besnek, Halil Aslan, İhsan Yildirim, Bariş Erdogan","doi":"10.18071/isz.78.0407","DOIUrl":"https://doi.org/10.18071/isz.78.0407","url":null,"abstract":"<p><strong>Background and purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 11-12","pages":"407-416"},"PeriodicalIF":0.6,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145649990","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}
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}
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.
{"title":"[Neuromyelitis optica spectrum disorder: new international recommendations and emerging therapeutic options; current status of domestic practice in diagnostics and therapeutic strategies].","authors":"Cecília Rajda","doi":"10.18071/isz.78.0295","DOIUrl":"10.18071/isz.78.0295","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 9-10","pages":"295-305"},"PeriodicalIF":0.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145201601","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}
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.
{"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}
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
{"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":"<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","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}
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。
{"title":"Do nerve blocks boost mood and functional activity in patients with chronic migraine and medication overuse headache?","authors":"Ahmet Basari, Gökhan Pek, Ibrahim Asik","doi":"10.18071/isz.78.0339","DOIUrl":"https://doi.org/10.18071/isz.78.0339","url":null,"abstract":"<p><strong>Background and purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":50394,"journal":{"name":"Ideggyogyaszati Szemle-Clinical Neuroscience","volume":"78 9-10","pages":"339-347"},"PeriodicalIF":0.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145201963","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}
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.
{"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}