Pub Date : 2023-11-01DOI: 10.1016/j.nrleng.2021.04.009
A. Arauz , M.A. Barboza , L.C. Quintero , C. Cantu , E. Chiquete , F. Serrano
Introduction
Despite the highly favorable prognosis, mortality occurs in nearly 2% of patients with cerebral venous thrombosis (CVT), in which decompressive craniectomy (DC) may be the only way to save the patient's life. The aim of this report is to describe the risk factors, neuroimaging features, in-hospital complications and functional outcome of severe CVT in patients treated with DC.
Materials and methods
Consecutive malignant CVT cases treated with DC from a retrospective third-level hospital database were analyzed. Demographic, clinical, and functional outcomes were analyzed.
Results
Twenty-six patients were included (20 female, age 35.4 ± 12.1 years); 53.8% of the patients had acute CVT, with neurological focalization as the most common symptom in 92.3% of the patients. Superior sagittal sinus thromboses were found in 84.6% of cases. Bilateral lesions were present in 10 patients (38.5%). Imaging on admission showed a parenchymal lesion (venous infarction ± hemorrhagic lesion) > 6 cm measured along the longest diameter in 25 patients (96.2%). Mean duration of clinical neurological deterioration was 3.5 days; eleven patients (42.3%) died during hospitalization.
Conclusion
In patients with severe forms of CVT, we found higher mortality than previously reported. DC is an effective life-saving treatment with acceptable functional prognosis for survivors.
{"title":"Prognosis of patients with severe cerebral venous thrombosis treated with decompressive craniectomy","authors":"A. Arauz , M.A. Barboza , L.C. Quintero , C. Cantu , E. Chiquete , F. Serrano","doi":"10.1016/j.nrleng.2021.04.009","DOIUrl":"10.1016/j.nrleng.2021.04.009","url":null,"abstract":"<div><h3>Introduction</h3><p>Despite the highly favorable prognosis, mortality occurs in nearly 2% of patients with cerebral venous thrombosis (CVT), in which decompressive craniectomy (DC) may be the only way to save the patient's life. The aim of this report is to describe the risk factors, neuroimaging features, in-hospital complications and functional outcome of severe CVT in patients treated with DC.</p></div><div><h3>Materials and methods</h3><p>Consecutive malignant CVT cases treated with DC from a retrospective third-level hospital database were analyzed. Demographic, clinical, and functional outcomes were analyzed.</p></div><div><h3>Results</h3><p>Twenty-six patients were included (20 female, age 35.4<!--> <!-->±<!--> <!-->12.1 years); 53.8% of the patients had acute CVT, with neurological focalization as the most common symptom in 92.3% of the patients. Superior sagittal sinus thromboses were found in 84.6% of cases. Bilateral lesions were present in 10 patients (38.5%). Imaging on admission showed a parenchymal lesion (venous infarction<!--> <!-->±<!--> <!-->hemorrhagic lesion)<!--> <!-->><!--> <!-->6<!--> <!-->cm measured along the longest diameter in 25 patients (96.2%). Mean duration of clinical neurological deterioration was 3.5 days; eleven patients (42.3%) died during hospitalization.</p></div><div><h3>Conclusion</h3><p>In patients with severe forms of CVT, we found higher mortality than previously reported. DC is an effective life-saving treatment with acceptable functional prognosis for survivors.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"38 9","pages":"Pages 617-624"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580822001663/pdfft?md5=cb907e33e57bfd27d0b83f2f2ff9b807&pid=1-s2.0-S2173580822001663-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138300851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-10-01DOI: 10.1016/j.nrleng.2023.07.002
P. Martín-Jiménez , M. Sánchez-Tornero , S. Llamas-Velasco , M.P. Guerrero-Molina , M. González-Sánchez , A. Herrero-San Martín , V. Blanco-Palmero , P. Calleja-Castaño , J. Francisco-Gonzalo , A. Hilario , A. Ramos , E. Salvador , Ó. Toldos , A. Hernández-Lain , D.A. Pérez-Martínez , A. Villarejo-Galende
Introduction
Cerebral amyloid angiopathy–related inflammation (CAA-ri) is an entity characterised by an inflammatory response to β-amyloid deposition in the walls of cerebral microvessels.
Methods
We conducted a retrospective review of a series of patients with a diagnosis of CAA-ri according to histopathological study findings or clinical-radiological diagnostic criteria.
Results
The study included 7 patients (5 men) with a mean age of 79 years. Disease onset was acute or subacute in 6 patients. The most frequent symptoms were cognitive impairment (n = 6), behavioural alterations (n = 5), epileptic seizures (n = 5), focal neurological signs (n = 4), and headache (n = 2). Cerebrospinal fluid was abnormal in 3 patients (lymphocytic pleocytosis and high protein levels). The most frequent MRI findings were microbleeds (n = 7), subcortical white matter hyperintensities on T2-FLAIR sequences (n = 7), and leptomeningeal enhancement (n = 6). Lesions were bilateral in 3 patients and most frequently involved the parieto-occipital region (n = 5). Amyloid PET studies were performed in 2 patients, one of whom showed pathological findings. Two patients underwent brain biopsy, which confirmed diagnosis. All patients received immunosuppressive therapy. An initially favourable clinical-radiological response was observed in all cases, with 2 patients presenting radiological recurrence after treatment withdrawal, with a subsequent improvement after treatment was resumed.
Conclusions
Early diagnosis of CAA-ri is essential: early treatment has been shown to improve prognosis and reduce the risk of recurrence. Although a histopathological study is needed to confirm diagnosis, clinical-radiological criteria enable diagnosis without biopsy.
{"title":"Cerebral amyloid angiopathy–related inflammation: clinical features and treatment response in a case series","authors":"P. Martín-Jiménez , M. Sánchez-Tornero , S. Llamas-Velasco , M.P. Guerrero-Molina , M. González-Sánchez , A. Herrero-San Martín , V. Blanco-Palmero , P. Calleja-Castaño , J. Francisco-Gonzalo , A. Hilario , A. Ramos , E. Salvador , Ó. Toldos , A. Hernández-Lain , D.A. Pérez-Martínez , A. Villarejo-Galende","doi":"10.1016/j.nrleng.2023.07.002","DOIUrl":"10.1016/j.nrleng.2023.07.002","url":null,"abstract":"<div><h3>Introduction</h3><p>Cerebral amyloid angiopathy–related inflammation (CAA-ri) is an entity characterised by an inflammatory response to β-amyloid deposition in the walls of cerebral microvessels.</p></div><div><h3>Methods</h3><p>We conducted a retrospective review of a series of patients with a diagnosis of CAA-ri according to histopathological study findings or clinical-radiological diagnostic criteria.</p></div><div><h3>Results</h3><p>The study included 7 patients (5 men) with a mean age of 79 years. Disease onset was acute or subacute in 6 patients. The most frequent symptoms were cognitive impairment (n = 6), behavioural alterations (n = 5), epileptic seizures (n = 5), focal neurological signs (n = 4), and headache (n = 2). Cerebrospinal fluid was abnormal in 3 patients (lymphocytic pleocytosis and high protein levels). The most frequent MRI findings were microbleeds (n = 7), subcortical white matter hyperintensities on T2-FLAIR sequences (n = 7), and leptomeningeal enhancement (n = 6). Lesions were bilateral in 3 patients and most frequently involved the parieto-occipital region (n = 5). Amyloid PET studies were performed in 2 patients, one of whom showed pathological findings. Two patients underwent brain biopsy, which confirmed diagnosis. All patients received immunosuppressive therapy. An initially favourable clinical-radiological response was observed in all cases, with 2 patients presenting radiological recurrence after treatment withdrawal, with a subsequent improvement after treatment was resumed.</p></div><div><h3>Conclusions</h3><p>Early diagnosis of CAA-ri is essential: early treatment has been shown to improve prognosis and reduce the risk of recurrence. Although a histopathological study is needed to confirm diagnosis, clinical-radiological criteria enable diagnosis without biopsy.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"38 8","pages":"Pages 550-559"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9903335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-10-01DOI: 10.1016/j.nrleng.2020.10.011
R. López-Blanco , A. Sorrentino Rodriguez , E. Cubo , Í. Gabilondo , D. Ezpeleta , M.Á. Labrador-Espinosa , Á. Sánchez-Ferro , C. Tejero , M. Matarazzo , on behalf of the SEN's New Technologies Ad-Hoc Committee
Introduction
New technologies are increasingly widespread in biomedicine. Using the consensus definition of new technologies established by the New Technologies Ad-Hoc Committee of the Spanish Society of Neurology (SEN), we evaluated the impact of these technologies on Spanish neurology, based on communications presented at Annual Meetings of the SEN.
Material and methods
We defined the concept of new technology in neurology as a novel technology or novel application of an existing technology, characterised by a certain degree of coherence persisting over time, with the potential to have an impact on the present and/or future of neurology. We conducted a descriptive study of scientific communications presented at the SEN’s annual meetings from 2012 to 2018, analysing the type of technology, the field of neurology, and the geographical provenance of the studies.
Results
We identified 299 communications related with new technologies from a total of 8139 (3.7%), including 120 posters and 179 oral communications, ranging from 1.6% of all communications in 2012 to 6.8% in 2018. The technologies most commonly addressed were advanced neuroimaging (24.7%), biosensors (17.1%), electrophysiology and neurostimulation (14.7%), and telemedicine (13.7%). The neurological fields where new technologies were most widely employed were movement disorders (18.4%), cerebrovascular diseases (15.7%), and dementia (13.4%). Madrid was the region presenting the highest number of communications related to new technologies (32.8%), followed by Catalonia (26.8%) and Andalusia (9.0%).
Conclusions
The number of communications addressing new technologies follows an upward trend. The number of technologies used in neurology has increased in parallel with their availability. We found scientific communications in all neurological subspecialties, with a heterogeneous geographical distribution.
{"title":"Impact of new technologies on neurology in Spain. Review by the New Technologies Ad-Hoc Committee of the Spanish Society of Neurology","authors":"R. López-Blanco , A. Sorrentino Rodriguez , E. Cubo , Í. Gabilondo , D. Ezpeleta , M.Á. Labrador-Espinosa , Á. Sánchez-Ferro , C. Tejero , M. Matarazzo , on behalf of the SEN's New Technologies Ad-Hoc Committee","doi":"10.1016/j.nrleng.2020.10.011","DOIUrl":"10.1016/j.nrleng.2020.10.011","url":null,"abstract":"<div><h3>Introduction</h3><p>New technologies are increasingly widespread in biomedicine. Using the consensus definition of new technologies established by the New Technologies Ad-Hoc Committee of the Spanish Society of Neurology (SEN), we evaluated the impact of these technologies on Spanish neurology, based on communications presented at Annual Meetings of the SEN.</p></div><div><h3>Material and methods</h3><p>We defined the concept of new technology in neurology as a novel technology or novel application of an existing technology, characterised by a certain degree of coherence persisting over time, with the potential to have an impact on the present and/or future of neurology. We conducted a descriptive study of scientific communications presented at the SEN’s annual meetings from 2012 to 2018, analysing the type of technology, the field of neurology, and the geographical provenance of the studies.</p></div><div><h3>Results</h3><p>We identified 299 communications related with new technologies from a total of 8139 (3.7%), including 120 posters and 179 oral communications, ranging from 1.6% of all communications in 2012 to 6.8% in 2018. The technologies most commonly addressed were advanced neuroimaging (24.7%), biosensors (17.1%), electrophysiology and neurostimulation (14.7%), and telemedicine (13.7%). The neurological fields where new technologies were most widely employed were movement disorders (18.4%), cerebrovascular diseases (15.7%), and dementia (13.4%). Madrid was the region presenting the highest number of communications related to new technologies (32.8%), followed by Catalonia (26.8%) and Andalusia (9.0%).</p></div><div><h3>Conclusions</h3><p>The number of communications addressing new technologies follows an upward trend. The number of technologies used in neurology has increased in parallel with their availability. We found scientific communications in all neurological subspecialties, with a heterogeneous geographical distribution.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"38 8","pages":"Pages 591-598"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40510483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-10-01DOI: 10.1016/j.nrleng.2023.07.003
U. Díaz-Aristizabal, M. Valdés-Vilches, T.R. Fernández-Ferreras, E. Calero-Muñoz, E. Bienzobas-Allué, L. Aguilera-Ballester, J. Carnicer-Cáceres
Objectives
This study aimed to assess the effects of botulinum toxin A (BTX-A) infiltration on face muscle function, synkinesis, and quality of life in patients with sequelae of peripheral facial palsy (PFP).
Mean SFGS scores increased from 64.8 to 69.9 after BTX-A infiltration (P = .004). Increases were also observed in mean total FaCE scores (from 52.42 to 64.5; P < .001) and the mean score on the FaCE social function subscale (from 61.15 to 78.44; P < .001). Mean SAQ scores decreased from 46.22 to 37.55 after BTX-A infiltration (P = .001).
Conclusions
BTX-A infiltration increases face muscle function, improves quality of life, and reduces synkinesis in patients with sequelae of PFP.
The performance of the Low-Profile Visualized Intraluminal Support (LVIS) stent deployed following balloon angioplasty is unknown in treating intracranial atherosclerotic stenosis, and this study was to investigate the safety and efficacy of the LVIS stent in treating intracranial atherosclerotic stenosis in the middle cerebral artery M1 segment.
Methods
Thirty-five patients were enrolled with 35 atherosclerotic stenoses at the M1 segment. The stenosis was about 75% in 16 patients, 80% in 15, and 90% in the rest four. The LVIS stent was used to treat these patients.
Results
The success rate of stenting was 97.1%. The stenting procedure was failed in one patient because of intraprocedural dissection of the stenotic (75%) segment, resulting in a 30-day periprocedural complication rate of 2.9% (1/35). Before stenting, the stenosis rate ranged 75%–90% (mean 78.9% ± 4.7%), and after stenting, the diameter of the stented segment was significantly (P < 0.0001) increased to 1.5–3.4 mm (mean 2.1 ± 0.32 mm) ranging 68.2%–100% (mean 94.0% ± 5.8%) of the normal arterial diameter, with the residual stenosis ranging 0–31.8% (median 4.8%, IQR 2.4%–7.3%). Follow-up was performed at 6–20 months (mean 8.5) after stenting. One patient (2.9%) had occlusion of the stented M1 segment with no symptoms, and two patients (5.7%) had slight asymptomatic instent stenosis (40%) at the M1 segment, with the instent restenosis and occlusion rate of 8.6% (3/35).
Conclusion
The braided LVIS stent can be safely applied for treatment of intracranial atherosclerotic stenosis in the middle cerebral artery with good safety and efficacy immediately after stenting and at follow-up.
{"title":"Safety and efficacy of the Low-Profile Visualized Intraluminal Support stent in treating intracranial atherosclerotic stenosis","authors":"J.-W. Wang, X.-Y. Li, C.-H. Li, J.-F. Liu, H. Li, Y.-Y. Tian, B.-L. Gao","doi":"10.1016/j.nrleng.2023.07.005","DOIUrl":"10.1016/j.nrleng.2023.07.005","url":null,"abstract":"<div><h3>Purpose</h3><p>The performance of the Low-Profile Visualized Intraluminal Support (LVIS) stent deployed following balloon angioplasty is unknown in treating intracranial atherosclerotic stenosis, and this study was to investigate the safety and efficacy of the LVIS stent in treating intracranial atherosclerotic stenosis in the middle cerebral artery M1 segment.</p></div><div><h3>Methods</h3><p>Thirty-five patients were enrolled with 35 atherosclerotic stenoses at the M1 segment. The stenosis was about 75% in 16 patients, 80% in 15, and 90% in the rest four. The LVIS stent was used to treat these patients.</p></div><div><h3>Results</h3><p>The success rate of stenting was 97.1%. The stenting procedure was failed in one patient because of intraprocedural dissection of the stenotic (75%) segment, resulting in a 30-day periprocedural complication rate of 2.9% (1/35). Before stenting, the stenosis rate ranged 75%–90% (mean 78.9%<!--> <!-->±<!--> <!-->4.7%), and after stenting, the diameter of the stented segment was significantly (<em>P</em> <!--><<!--> <!-->0.0001) increased to 1.5–3.4<!--> <!-->mm (mean 2.1<!--> <!-->±<!--> <!-->0.32<!--> <!-->mm) ranging 68.2%–100% (mean 94.0%<!--> <!-->±<!--> <!-->5.8%) of the normal arterial diameter, with the residual stenosis ranging 0–31.8% (median 4.8%, IQR 2.4%–7.3%). Follow-up was performed at 6–20 months (mean 8.5) after stenting. One patient (2.9%) had occlusion of the stented M1 segment with no symptoms, and two patients (5.7%) had slight asymptomatic instent stenosis (40%) at the M1 segment, with the instent restenosis and occlusion rate of 8.6% (3/35).</p></div><div><h3>Conclusion</h3><p>The braided LVIS stent can be safely applied for treatment of intracranial atherosclerotic stenosis in the middle cerebral artery with good safety and efficacy immediately after stenting and at follow-up.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"38 8","pages":"Pages 521-529"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41173532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-10-01DOI: 10.1016/j.nrleng.2021.02.009
M. Torres-Ferrus , A.C. López-Veloso , V. Gonzalez-Quintanilla , N. González-García , J. Díaz de Teran , A. Gago-Veiga , J. Camiña , M. Ruiz , N. Mas-Sala , S. Bohórquez , V.J. Gallardo , P. Pozo-Rosich
Background
Migraine attacks have a high impact on daily activities. There is limited research on the burden of migraine on sexual functioning.
Objective
To determine the prevalence of sexual dysfunction in patients with migraine and its relationship with migraine features and comorbidities.
Method
This is a cross-sectional study. We included migraine patients between 18 and 60 years-old from 8 Headache Clinics in Spain. We recorded demographic data and migraine features. Patients fulfilled a survey including comorbidities, Arizona Sexual Experiences Scale, Hospital Anxiety and Depression Scale and a questionnaire about migraine impact on sexual activity. A K-nearest neighbor supervised learning algorithm was used to identify differences between migraine patients with and without sexual dysfunction.
Results
We included 306 patients (85.6% women, mean age 42.3 ±11.1 years). A 41.8% of participants had sexual dysfunction. Sexual dysfunction was associated with being female (OR [95% CI]: 2.42 [1.17–5.00]; p < 0.001), being older than 46.5 years (4.04 [2.48–6.59]; p < 0.001), having chronic migraine (2.31 [1.41–3.77]; p = 0.001), using preventive medication (2.45 [1.35–4.45]; p = 0.004), analgesic overusing (3.51 [2.03–6.07]; p < 0.001), menopause (4.18 [2.43–7.17]; p < 0.001) and anxiety (2.90 [1.80–4.67]; p < 0.001) and depression (6.14 [3.18–11.83]; p < 0.001). However, only female gender, age, menopause and depression were the statistically significant variables selected in the model to classify migraine patients with or without sexual dysfunction (Accuracy [95% CI]: 0.75 (0.62–0.85), Kappa: 0.48, p = 0.005).
Conclusions
Sexual dysfunction is frequent in migraine patients visited in a headache clinic. However, migraine characteristics or use of preventive medication are not directly associated with sexual dysfunction. Instead, risk factors for sexual dysfunction were female gender, higher age, menopause and depression.
{"title":"The MIGREX study: Prevalence and risk factors of sexual dysfunction among migraine patients","authors":"M. Torres-Ferrus , A.C. López-Veloso , V. Gonzalez-Quintanilla , N. González-García , J. Díaz de Teran , A. Gago-Veiga , J. Camiña , M. Ruiz , N. Mas-Sala , S. Bohórquez , V.J. Gallardo , P. Pozo-Rosich","doi":"10.1016/j.nrleng.2021.02.009","DOIUrl":"10.1016/j.nrleng.2021.02.009","url":null,"abstract":"<div><h3>Background</h3><p>Migraine attacks have a high impact on daily activities. There is limited research on the burden of migraine on sexual functioning.</p></div><div><h3>Objective</h3><p>To determine the prevalence of sexual dysfunction in patients with migraine and its relationship with migraine features and comorbidities.</p></div><div><h3>Method</h3><p>This is a cross-sectional study. We included migraine patients between 18 and 60 years-old from 8 Headache Clinics in Spain. We recorded demographic data and migraine features. Patients fulfilled a survey including comorbidities, Arizona Sexual Experiences Scale, Hospital Anxiety and Depression Scale and a questionnaire about migraine impact on sexual activity. A K-nearest neighbor supervised learning algorithm was used to identify differences between migraine patients with and without sexual dysfunction.</p></div><div><h3>Results</h3><p>We included 306 patients (85.6% women, mean age 42.3<!--> <!-->±11.1 years). A 41.8% of participants had sexual dysfunction. Sexual dysfunction was associated with being female (OR [95% CI]: 2.42 [1.17–5.00]; <em>p</em> <!--><<!--> <!-->0.001), being older than 46.5 years (4.04 [2.48–6.59]; <em>p</em> <!--><<!--> <!-->0.001), having chronic migraine (2.31 [1.41–3.77]; <em>p</em> <!-->=<!--> <!-->0.001), using preventive medication (2.45 [1.35–4.45]; <em>p</em> <!-->=<!--> <!-->0.004), analgesic overusing (3.51 [2.03–6.07]; <em>p</em> <!--><<!--> <!-->0.001), menopause (4.18 [2.43–7.17]; <em>p</em> <!--><<!--> <!-->0.001) and anxiety (2.90 [1.80–4.67]; <em>p</em> <!--><<!--> <!-->0.001) and depression (6.14 [3.18–11.83]; <em>p</em> <!--><<!--> <!-->0.001). However, only female gender, age, menopause and depression were the statistically significant variables selected in the model to classify migraine patients with or without sexual dysfunction (Accuracy [95% CI]: 0.75 (0.62–0.85), Kappa: 0.48, <em>p</em> <!-->=<!--> <!-->0.005).</p></div><div><h3>Conclusions</h3><p>Sexual dysfunction is frequent in migraine patients visited in a headache clinic. However, migraine characteristics or use of preventive medication are not directly associated with sexual dysfunction. Instead, risk factors for sexual dysfunction were female gender, higher age, menopause and depression.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"38 8","pages":"Pages 541-549"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41177711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-10-01DOI: 10.1016/j.nrleng.2023.07.001
J.P. Sánchez Marín , P. Sienes Bailo , R. Lahoz Alonso , J.L. Capablo Liesa , J. Gazulla Abio , J.A. Giménez Muñoz , P.J. Modrego Pardo , B. Pardiñas Barón , S. Izquierdo Álvarez
Introduction
The incidence of myotonic dystrophy type 1 (DM1), a disease with great phenotypic variety, in our region is unknown. This study aims to estimate the incidence of DM1 at our hospital (a reference centre in Aragon, Spain) and to identify the characteristics of our population (genotype-phenotype correlation).
Methods
Retrospective, descriptive study of 459 patients classified according to the number of CTG repeats, as follows: normal (5–35), premutation (36–50), protomutation (51–80), small expansions (81–150), intermediate expansions (151–1000), and large expansions (> 1000). Furthermore, according to clinical phenotype, patients were categorised as unaffected (5–50 CTG repeats), mild form or asymptomatic (51–150), classical form (151–1000), and severe form (> 1000).
Results
The incidence of DM1 was 20.61 cases per million person-years (95% CI, 19.59–21.63). An inverse correlation was observed between the number of CTG repeats and the age at genetic diagnosis (ρ = –0.547; 95% CI, –0.610 to –0.375; P < .001). CTG5 was the most frequent polymorphic allele in healthy individuals. Of all patients with DM1, 28.3% presented the mild or asymptomatic form, 59.1% the classical form, and 12.6% the severe form. Inheritance was maternal in 35.1% of cases, paternal in 59.4%, and uncertain in 5.5%. In mild forms, frontal balding in men was the most prevalent phenotypic trait, as well as myotonia and cataracts, while in the classical form, ptosis, facial weakness, voice and pronunciation alterations, myotonia, and fatigue/sleepiness were most frequent.
Conclusions
The incidence of DM1 in Aragon is significant. Multidisciplinary study of the phenotype of patients with DM1 is key to early diagnosis and personalised management.
{"title":"Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation","authors":"J.P. Sánchez Marín , P. Sienes Bailo , R. Lahoz Alonso , J.L. Capablo Liesa , J. Gazulla Abio , J.A. Giménez Muñoz , P.J. Modrego Pardo , B. Pardiñas Barón , S. Izquierdo Álvarez","doi":"10.1016/j.nrleng.2023.07.001","DOIUrl":"10.1016/j.nrleng.2023.07.001","url":null,"abstract":"<div><h3>Introduction</h3><p>The incidence of myotonic dystrophy type 1 (DM1), a disease with great phenotypic variety, in our region is unknown. This study aims to estimate the incidence of DM1 at our hospital (a reference centre in Aragon, Spain) and to identify the characteristics of our population (genotype-phenotype correlation).</p></div><div><h3>Methods</h3><p>Retrospective, descriptive study of 459 patients classified according to the number of CTG repeats, as follows: normal (5–35), premutation (36–50), protomutation (51–80), small expansions (81–150), intermediate expansions (151–1000), and large expansions (> 1000). Furthermore, according to clinical phenotype, patients were categorised as unaffected (5–50 CTG repeats), mild form or asymptomatic (51–150), classical form (151–1000), and severe form (> 1000).</p></div><div><h3>Results</h3><p>The incidence of DM1 was 20.61 cases per million person-years (95% CI, 19.59–21.63). An inverse correlation was observed between the number of CTG repeats and the age at genetic diagnosis (ρ = –0.547; 95% CI, –0.610 to –0.375; <em>P</em> < .001). CTG<sub>5</sub> was the most frequent polymorphic allele in healthy individuals. Of all patients with DM1, 28.3% presented the mild or asymptomatic form, 59.1% the classical form, and 12.6% the severe form. Inheritance was maternal in 35.1% of cases, paternal in 59.4%, and uncertain in 5.5%. In mild forms, frontal balding in men was the most prevalent phenotypic trait, as well as myotonia and cataracts, while in the classical form, ptosis, facial weakness, voice and pronunciation alterations, myotonia, and fatigue/sleepiness were most frequent.</p></div><div><h3>Conclusions</h3><p>The incidence of DM1 in Aragon is significant. Multidisciplinary study of the phenotype of patients with DM1 is key to early diagnosis and personalised management.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"38 8","pages":"Pages 530-540"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9918367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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