Department Of Neurology Research Articles

Evaluation of a Natural Language Processing Approach to Identify Diagnostic Errors and Analysis of Safety Learning System Case Review Data: Retrospective Cohort Study.

Diagnostic errors are an underappreciated cause of preventable mortality in hospitals and pose a risk for severe patient harm and increase hospital length of stay. This study aims to explore the potential of machine learning and natural language processing techniques in improving diagnostic safety surveillance. We conducted a rigorous evaluation of the feasibility and potential to use electronic health records clinical notes and existing case review data. Safety Learning System case review data from 1 large health system composed of 10 hospitals in the mid-Atlantic region of the United States from February 2016 to September 2021 were analyzed. The case review outcome included opportunities for improvement including diagnostic opportunities for improvement. To supplement case review data, electronic health record clinical notes were extracted and analyzed. A simple logistic regression model along with 3 forms of logistic regression models (ie, Least Absolute Shrinkage and Selection Operator, Ridge, and Elastic Net) with regularization functions was trained on this data to compare classification performances in classifying patients who experienced diagnostic errors during hospitalization. Further, statistical tests were conducted to find significant differences between female and male patients who experienced diagnostic errors. In total, 126 (7.4%) patients (of 1704) had been identified by case reviewers as having experienced at least 1 diagnostic error. Patients who had experienced diagnostic error were grouped by sex: 59 (7.1%) of the 830 women and 67 (7.7%) of the 874 men. Among the patients who experienced a diagnostic error, female patients were older (median 72, IQR 66-80 vs median 67, IQR 57-76; P=.02), had higher rates of being admitted through general or internal medicine (69.5% vs 47.8%; P=.01), lower rates of cardiovascular-related admitted diagnosis (11.9% vs 28.4%; P=.02), and lower rates of being admitted through neurology department (2.3% vs 13.4%; P=.04). The Ridge model achieved the highest area under the receiver operating characteristic curve (0.885), specificity (0.797), positive predictive value (PPV; 0.24), and F1-score (0.369) in classifying patients who were at higher risk of diagnostic errors among hospitalized patients. Our findings demonstrate that natural language processing can be a potential solution to more effectively identifying and selecting potential diagnostic error cases for review and therefore reducing the case review burden.

Conventional and 2-Dimensional Speckle Tracking Echocardiography in Fabry Disease

Abstract OBJECTIVE To analyze the myocardial involvement and explore the strain characteristics of the left atrium and the left ventricle in patients with Fabry disease (FD) using conventional echocardiography and 2-dimensional speckle tracking echocardiography (2D-STE). METHODS A retrospective study was conducted. Sixty-nine patients with FD who were treated in the Department of Cardiology, Neurology and Nephrology of Peking University First Hospital from August 2014 to February 2023 and underwent echocardiography examination in the Cardiology Department were collected (FD group). During the same time, 69 age- and sex-matched individuals who had no cardiovascular, cerebrovascular, renal, metabolic, and autoimmune diseases, and had no obvious abnormalities on echocardiography were included in the control group. The clinical data and laboratory tests were collected, and routine echocardiography and 2D-STE were performed to analyze left atrial strain and left ventricular longitudinal strain. The differences in relevant parameters between groups were compared. RESULTS Compared with the control group, the patients in the FD group had smaller body mass index and body surface area, slower heart rate, poorer estimated glomerular filtration rate, and significantly increased brain natriuretic peptide and cardiac troponin I (all P < 0.05). E’med in the FD group was reduced (8.4 ± 3.4 vs. 9.9 ± 2.8, P = 0.006) and E peak, E peak deceleration time, pulmonary artery systolic pressure increased, interventricular septum and left ventricular posterior wall thickened, left ventricular mass index, and early diastolic transmitral inflow velocity/septal mitral annular velocity (E/Eʹ) increased (all P < 0.05). Compared with the control group, left atrial strains [including left atrial strain during reservoir phase (LASr), left atrial strain during contraction phase (LASct), left atrial strain during conduit phase (LAScd)] and left ventricular average global longitudinal strain (GLSavg) were reduced in the FD group. In the segmental longitudinal strain of the left ventricular, the strain was significantly reduced except for the strain of the basal and middle segment of the inferior wall (P < 0.05). CONCLUSIONS Patients with FD usually have multisystem involvement such as kidney and heart. Echocardiography usually shows varying degrees of myocardial hypertrophy and diastolic dysfunction, while left ventricular ejection fraction is normal. Left atrial strain, left ventricular global, and segmental longitudinal strain are all decreased to varying degrees.

Evaluation of volume measurements of neuroanatomical structures related to speech in multiple sclerosis patients.

Individuals with multiple sclerosis (MS) may experience various speech-related issues, including decreased speech rate, increased pauses, and changes in speech rhythms. The purpose of this study was to compare the volumes of speech-related neuroanatomical structures in MS patients with those in a control group. The research was conducted in the Neurology and Radiology Departments of Malatya Training and Research Hospital. The records of patients who presented to the Neurology Department between 2019 and 2022 were examined. The study included the magnetic resonance imaging (MRI) findings of 100 individuals, with 50 in the control group and 50 patients with MS, who had applied to the hospital in the specified years. VolBrain is a free system that works automatically over the internet (http://volbrain.upv.es/), enabling the measurement of brain volumes without human interaction. The acquired images were analyzed using the VolBrain program. As a result of our research, a significant decrease was found in the volume of 18 of 26 speech-related regions in MS patients. It was determined that whole brain volumes decreased in the MS group compared to the control group. In our study, volume measurements of more speech-related areas were performed, unlike the few related studies previously conducted. We observed significant atrophy findings in the speech-related areas of the frontal, temporal, and parietal lobes of MS patients.

Evaluation of Clinical Distribution and Antimicrobial Resistance of Klebsiella Pneumoniae

Purpose: This paper aims to analyze the clinical distribution and drug resistance changes of Klebsiella Pneumoniae (KPN) from 2017 to 2021 in the Beijing Hospital of Integrated Traditional Chinese and Western Medicine to provide a reference for the clinical rational use of antibiotics. Methods: We collected Klebsiella Pneumoniae isolated from various clinical specimens in 2017-2021, analyzed the isolation rate, specimen distribution, and department distribution characteristics during the five years, and statistically analyzed their drug sensitivity tests and multiple drug resistance. Zhuhai Deere DL-96 full-automatic microbial analyzer was used for bacterial identification and drug sensitivity tests. The drug sensitivity test was interpreted according to the standards recommended by the American Clinical and Laboratory Standards Institute (CLSI). Results: A total of 1057 strains of Klebsiella Pneumoniae were identified between 2017 and 2021, with proportions of 18.6%, 15.7%, 15.4%, 15.1%, and 15.0% in each respective year. Specimen distribution included sputum (66.0%), urine (17.9%), throat swab (9.4%), secretion (2.4%), pus (0.7%), venous blood (0.6%), vaginal swab (0.4%), and other sources (2.6%). Distribution by the department revealed specimens originating from the respiratory department (21.2%), cardiology department (17.8%), neurology department (13.4%), oncology department (13.0%), nephrology department (12.2%), acupuncture department (10.1%), and other departments (12.3%). In terms of drug susceptibility testing, Klebsiella Pneumoniae exhibited high resistance rates to ceftriaxone, cefotaxime, ceftazidime, and ampicillin/sulbactam, with rates of 50.8%, 46.8%, 46.3%, and 43.6% respectively. Conversely, resistance rates to minocycline, amikacin, imipenem, and meropenem were relatively low, at 8.6%, 16.5%, 8.5%, and 9.4% respectively. Resistance rates to cefepime/- sulbactam and piperacillin/tazobactam were 29.9% and 28.9%, respectively, while cephalosporin resistance rates ranged from 36.1% to 50.8%. Regarding multidrug resistance, the detection rates of ESBL-producing Klebsiella Pneumoniae were 8.2%, 10.9%, 4.5%, 10.6%, and 6.4% from 2017 to 2021, with an average detection rate of 7.9%. The detection rates of CR-Kp were 12.1%, 11.7%, 5.8%, 9.9%, and 8.9% respectively, averaging 9.6% over the five-year period. Conclusion: The sputum specimen of Klebsiella Pneumoniae exhibits the highest detection rate among specimen distributions, signifying its significance as a pathogenic bacterium in respiratory tract infections. Notably, the respiratory department demonstrates the highest detection rate, underscoring the necessity to enhance the monitoring and management of Klebsiella Pneumoniae infections in respiratory patients. Over the past five years, our hospital has observed a decreasing trend in the overall drug resistance rate of Klebsiella Pneumoniae to 17 antibiotics. While imipenem and meropenem exhibit minimal resistance rates, these carbapenem antibiotics serve as crucial agents for treating gram-negative bacilli, particularly in critically ill patients, and are thus not recommended as first-line choices for routine clinical use. Conversely, minocycline, amikacin, ceftazidime/ sulbactam, and piperacillin/tazobactam showcase relatively low resistance rates, enabling their empirical use based on clinical experience. Combination therapy with other antibiotics is advised for amikacin. Conclusion: Nevertheless, cephalosporins display a relatively high resistance rate, necessitating a reduction in their clinical utilization. Regarding multidrug resistance, the detection of ESBLs-producing Klebsiella Pneumoniae (KP) and Carbapenem-Resistant KP (CR-Kp) has exhibited a declining trend over the past three years. Despite this positive trend, the issue of multidrug resistance in Klebsiella Pneumoniae remains severe, with instances of complete drug resistance reported. Clinicians are urged to judiciously administer antibiotics guided by drug sensitivity test results and resistance rate variations, restrict the use of broad-spectrum antibiotics, and manage the emergence and spread of ESBLs-producing and CR-Kp bacteria.

Epidemiological, Clinical, Etiological, and Therapeutic Aspects of Cerebral Palsy in Dakar

AbstractCerebral palsy is one of the most frequent causes of motor disability in children. The aim of our study was to characterize the epidemiological, clinical, paraclinical, etiological, and therapeutic aspects in Dakar. This was a retrospective and descriptive study from March 2010 to March 2020 at the Albert Royer National Children's Hospital and the Neurology Department of the Fann National University Hospital. We collected 913 patients, 13.7% of all pediatric neurology consultations, out of which 556 (60.9%) were males. The average age of the patients was 32.99 months (ranging between 25 days and 17 years). The most common subtype was isolated axial hypotonia (50%) followed by pyramidal (40.5%) and 45% had epilepsy. Brain imaging revealed cortico-subcortical atrophy in 15% of cases. Five hundred and fifty-two children (60.5%) had an electroencephalogram out of which 19.4% had diffuse irritative anomalies. In terms of treatment, 73% had received motor kinesitherapy. Sodium valproate was the most commonly used antiseizure medication at 76.67%. The average follow-up was 12 months. Seven hundred and ninety-two children (86.8%) were lost to follow-up and 5 children (0.5%) died. Psychomotor development improved in 219 children (13.4%) who acquired standing. Note that 267 children (30%) in a stable sitting position and 29 children had acquired language. Cerebral palsy is a disabling condition that needs to be diagnosed early and early interventions can improve the quality of life of the child.

Live Streaming of the Professor's Ward Rounds in Undergraduate Neurology Education: Usability Study.

Although neurology department ward rounds are among the most important medical education exercises in Japan, they have several issues. Patients may find it unpleasant to undergo repeated neurological tests, especially when in the presence of several students. Only the front row of students can closely observe the examination findings; moreover, students were prohibited from contacting patients altogether during the COVID-19 pandemic. One possible solution is to use commercial videoconferencing systems. However, Japanese patients are reluctant to have their medical information or video footage of them sent outside of the hospital via the internet. The study aimed to confirm the feasibility of conducting remote teaching rounds using an in-house web conferencing system in which the patients' personal data are securely protected. This study also explored whether using remote rounds alongside face-to-face participation would enhance learning. We created an on-premises videoconferencing system using an open-source app. To perform video ward rounds, the professor wore a wireless microphone while leading routine in-person rounds and the attending physician carried a tablet device linked to a web conference, allowing students in another room to watch the rounds on a live stream. In total, 112 of 5th-year students who entered their 1-week neurology rotation between 2021 and 2022 were instructed to participate in 1-hour in-person and remote rounds. Students were given questionnaires to evaluate their satisfaction and the educational effects of the remote rounds. The remote ward rounds were conducted easily with no interference with the in-person rounds, nor any complaints from the patients. Each examination technique was explained by another teacher to the students who participated in remote rounds in the conference room. Characteristic neurological findings, such as plantar reflexes (Babinski sign), which are usually seen only by close observers during in-person rounds, could be visualized under magnification by all students. The postexperience survey (82/112, 73% response rate) showed that the mean score of participants' satisfaction was 3.94 (SD 0.83; excellent 5 and poor 1). No participant scoring 1 was noted. The proportion of students who observed 6 representative abnormal neurological findings (Babinski sign, hyperreflexia, cerebellar ataxia, involuntary movement, muscular weakness, and abnormality in sensory examination) increased by 22% (18/82, range 13-24) compared to in-person rounds alone. When self-rating the learning value, 43% (35/82) of the students answered that remote rounds are equally as valuable as in-person rounds, while 32% (26/82) preferred remote rounds. Live-streaming of neurology ward rounds using a secure in-house web conferencing system provides additional learning experience without concerns regarding leakage of patient information. This initiative could enhance neurology learning before entering a clinical clerkship.

A risk prediction model for unexplained early neurological deterioration following intravenous thrombolysis

Background and objectivesEarly neurological deterioration (END) post-intravenous thrombolysis significantly impacts the long-term prognosis of stroke patients. This study aimed to establish a rapid risk prediction model for unexplained END following intravenous thrombolysis.MethodsThis prospective study consecutively enrolled patients with acute ischemic stroke treated with recombinant tissue plasminogen activator intravenous thrombolysis at the Department of Neurology, Third People’s Hospital of Hubei Province, and Yangluo Hospital District between June 2019 and December 2022. Unexplained END was defined as an increase of ≥ 4 points in the National Institutes of Health Stroke Scale (NIHSS) score between admission and 24 h. A nomogram was developed and assessed by calculating the area under the receiver operating characteristic curve (AUC-ROC). The calibration was assessed using the Hosmer–Lemeshow test.ResultsA total of 211 patients (130 males and 110 patients aged < 65 years) were included, with 66 experiencing unexplained END. Multivariate logistic regression analysis identified large arterial disease, transient ischemic attack, high blood glucose, high neutrophil/lymphocyte ratio, important perforator disease, and low the Alberta Stroke Program Early CT scores (APSECTS) as independent risk factors for END and established the nomogram used above indicators. The nomogram showed an AUC-ROC of 0.809 (95% CI 0.7429–0.8751), with a specificity of 0.862 and sensitivity of 0.712. The positive predictive value was 0.702, and the negative predictive value was 0.868. The Hosmer–Lemeshow goodness-of-fit test (χ2 = 1.069, P = 0.169) indicated acceptable model calibration.ConclusionThis study successfully established a risk prediction model for END following intravenous thrombolysis and the model demonstrates good stability and predictive capacity. Further validation through a prospective, multicenter study is necessary.

The Relative Impact of Clinical and Investigational Factors to Predict the Outcome in Stroke Patients.

As stroke is still considered a significant cause of mortality and morbidity, it is crucial to find the factors affecting the outcome in these patients. We aimed to interpret the various clinical and investigational parameters and establish their association with the outcome in stroke patients. This is a retrospective, cross-sectional study, conducted in the Department of Neurology between June 2019 to November 2021. The study involved the review and analysis of medical records pertaining to 264 patients, admitted with the diagnosis of stroke. Various clinical, radiological, and electroencephalographic (EEG) patterns in stroke patients were analyzed and their association with outcome was established. The association between the studied variables was performed by the logistic regression (LR) and presented as odds ratio (OR) and 95% confidence interval (CI). The study sample consisted of 264 patients. Males comprised 165 (62.5%) with the mean participant age of 57.17 ± 18.7 3 years (range: 18-94). Patients younger than 50 years had a better likelihood of a good outcome in comparison to patients older than 50. The admission location was the most significant factor in predicting the outcome ( P = 0.00) in favor of inpatient department and outpatient department (OPD), in contrast to patients admitted directly to intensive care unit (ICU). Normal EEG was associated with good outcome ( P = 0.04; OR, 3.3; CI, 1.01-10.88) even after adjustment of the confounders, whereas patients having marked EEG slowing had a poor outcome ( P = 0.05; OR, 2.4; CI, 0.65-8.79). Among the clinical parameters, hemiparesis ( P = 0.03), trauma ( P = 0.01), generalized tonic-clonic seizures (GTC) ( P = 0.00), and National Institutes of Health Stroke Scale of more than 4 were more likely associated with a poor outcome as well as the presence of intracranial hemorrhage (ICH) or infarction in the cortical and cortical/subcortical locations were associated with poor outcomes. After adjustment of confounders, the factors found to have prognostic significance in favor of good outcomes were inpatients or OPD referrals and normal EEG while direct admission to ICU, marked slowing on EEG, and presence of ICH were found to be associated with poor outcome. Certain patterns are predictive of good or worse outcomes in stroke patients. Early identification of these factors can lead to early intervention, which in turn might help in a better outcome. The results of the study, therefore, have some prognostic significance.

Retrospective Analysis of Patients Applying to The Pediatric Neurology Outpatient Clinic For a Health Board Report

Introduction: Disability is any physical or mental impairment that makes it difficult for a person to perform certain activities and interact with the world around them.Individuals with disabilities and their families have primarily economic, psychological, and social problems. Patients apply to the health board to have easier access to other socioeconomic rights and services such as health, education, and transportation. This study aimed to examine the purposes of application, causes of childhood disability, and age distribution of pediatric neurology patients applying to the health board; and to raise awareness about the problems and delays encountered in reporting in the light of the relevant legislation. Results: Our study included 1506 patients who applied to the pediatric neurology outpatient clinic for a medical board report. The age of the patients was 8.5±4.5 years. 894(59.4%) were boys and 612(40.4%) were girls. The most common diagnoses at the outpatient clinic were retardation in cognitive development 406(27%), cerebral palsy 126(8.4%), autism 120(8%), speech delay 110(7.3%), and developmental delayn99(6.6%). In a pediatric neurology department, 487(32.3%) patients were scored in the nervous system and movement domain. 445(91.4%) patients were scored in the movement domain and 42(8.6%) patients in the nervous system domain. 237(48.7%) patients were given a "special condition requirement" score. Conclusion: Health board examinations constitute the patient groups that pediatric neurologists frequently encounter in daily practice. Approximately one-third of the patients admitted to the health board have a disability related to pediatric neurology. Therefore, all healthcare personnel, especially pediatric neurologists, have important duties.

The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study.

Mitochondrial diseases (MtDs) present diverse clinical phenotypes, yet large-scale studies are hindered by their rarity. This retrospective, multicenter study, conducted across five Chinese hospitals' neurology departments from 2009 to 2019, aimed to address this gap. Nationwide, 1351 patients were enrolled, with a median onset age of 14.0 (18.5) years. The predominant phenotype was mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) (45.0%). Mitochondrial DNA (mtDNA) mutations were prevalent (87.4%), with m.3243A>G being the most common locus (48.7%). Meanwhile, POLG mutations in nuclear DNA (nDNA) accounted for 16.5%. Comparative analysis based on age groups (with a cut-off at 14 years) revealed the highest prevalence of MELAS, with Leigh syndrome (LS) and chronic progressive external ophthalmoplegia (CPEO) being the second most common phenotypes in junior and senior groups, respectively. Notably, the most commonly mutated nuclear genes varied across age groups. In conclusion, MELAS predominated in this Chinese MtD cohort, underscored by m.3243A>G and POLG as principal mtDNA mutations and pathogenic nuclear genes. The phenotypic and genotypic disparities observed among different age cohorts highlight the complex nature of MtDs.

Glutathione S-transferase polymorphisms (GSTM1/GSTT1) outcomes in clinical profile and treatment responsiveness among Tunisian cohort of Parkinson's disease.

Glutathione S-transferases are involved in the oxidative stress which contributes to the pathogenesis of Parkinson's disease (PD). our aim was to investigate the influence of GSTM1 and GSTT1 polymorphisms on the clinical features and treatments outcomes among PD Tunisian patients. We included 300-PD patients followed in neurology department at Razi-University-hospital. GSTM1 and GSTT1 were screened using PCR methods. Correlation between the clinical phenotype and the genotypes was then assessed after adequate parameters adjustment. Individuals carrying inactive GSTT1/GSTM1 were estimated to have 2.5-fold higher risk of developing PD, p = 0.035. The demographic and clinical baseline analysis of GSTM1 polymorphism revealed significant association between the inactive gene and development of tremor as first symptoms (p = 0.046), further, it was correlated to asymmetric start (p = 0.044). The evaluation of the impact of GSTM1/GSTT1 activity among PD at last follow-up revealed the significant variability of motor impairment among cases carrier of the active genes (p = 0.048). As patients with inactive GSTM1/GSTT1 had higher UPDRS-III score. Additionally, higher frequency of cases with good treatment responsiveness was reported among PD with active GSTM1/GSTT1 (p = 0.038).No motor complications were observed among PD by considering the GSTs genotypes (p > 0.05). Finally, we noted significant impairment of memory among cases with inactivate GSTs (p = 0.04), attention deficit (p = 0.013) and impaired judgement (p = 0.0031). This study represents one of the most comprehensive and extensive investigation to date regarding the influence of GSTT1/GSTM1 genotype among PD patients.We speculate that the impact of GSTT1/GSTM1 on PD progression may occur through a cumulative effect, potentially not manifesting during the initial PD stages. Further studies are necessary to validate our conclusions.

Altered functional connectivity of parietal opercular 2 in patients with vestibular migraine: a resting-state fMRI study

Objective: To investigate the differences in resting-state functional connectivity (FC) between patients with vestibular migraine (VM) and migraine without aura (MwoA) in order to infer the possible neuroimaging mechanisms of VM. Methods: Thirty VM patients admitted to the Department of Neurology of the Second Affiliated Hospital of Xuzhou Medical University from December 2019 to December 2022 were selected as the experimental group (EG) (6 males and 24 females, with mean age of 38.3 years) and 26 MwoA patients as the control group (7 males and 19 females, mean age 35.5 years). General demographic and clinical data such as gender, age, year of education, course of disease and frequency of attacks were collected for all the patients, as well as data of Hamilton Anxiety Scale (HAMA), Hamilton Depression Scale (HAMD), Montreal Cognitive Assessment (MoCA), headache Visual Arialogue Scale (VAS), Headache Impact Test 6 (HIT-6) and Migraine Disability Assessment Questionnaire (MIDAS). VM patients were also assessed by Dizziness Handicap Inventory (DHI), dizziness VAS and Vestibular Disorders Activities of Daily Living (VADL) scales. All patients underwent resting-sate functional Magnetic Resonance Imaging (fMRI) scans. Bilateral parietal opercular cortex 2 (OP2) and primary visual cortex (V1) were used as regions of interests (ROIs). Differences in FC between ROIs and other brain regions were calculated between the two groups. In view of the brain regions with significant differences, z-values of FC were extracted for each subject in the EG, and Pearson partial correlation analysis was conducted between z-values of FC and clinical characteristics of patients, P<0.05 was considered to have significant correlation. SPSS 22.0 was used for statistical analysis. Results: There was no significant difference in gender, age, years of education, course of disease, frequency of attack and scores of MoCA, HAMA and HAMD between the two groups (P>0.05). Headache VAS, HIT-6 and MIDAS scores in VM patients were significantly lower than those in MwoA patients (P<0.05). Compared with MwoA patients, the FC between left OP2 and bilateral precuneus and left thalamus was significantly increased in VM patients, and the FC between right OP2 and left thalamus and right anterior cingulate gyrus were significantly increased (P<0.05, False Discovery Rate correction). Correlation analysis showed that the FC between left OP2 and left precuneus was positively correlated with DHI score in VM patients (P=0.007, r=0.480), and the FC between right OP2 and left thalamus was positively correlated with the disease course in VM patients (P=0.015, r=0.439). Conclusions: The pathogenesis of VM may be related to the altered FC of vestibular, pain and visual-motor networks, abnormalities of these neural pathways may be important imaging biomarkers of VM pathogenesis.

The combined application of oligoclonal bands in cerebrospinal fluid and IgG intrathecal synthesis indicators and biochemical markers in the diagnosis of multiple sclerosis

Objective: To establish and verify a diagnostic model for distinguishing multiple sclerosis (MS) from other neurological diseases with similar symptoms by usingcerebrospinal fluid oligoclonal band (CSF-OCB)combined with IgG intrathecal synthesis indicators and biochemical markers. Methods: Multiple sclerosis (MS) patients admitted to the Neurology Department of Beijing Tiantan Hospital affiliated with Capital Medical University from January 2014 to December 2022 were selected as the case group, while patients with similar neurological symptoms were selected as the control group. Using the case-control study design, a retrospective analysis was conducted on the detection of age, gender, oligoclonal bands in cerebrospinal fluid, IgG intrathecal synthesis indicators and biochemical indicators for all study subjects. The differential diagnosis model was determined by the multiple logistic regression analysis, and the receiver operating characteristic (ROC) curve was used to analyze the diagnostic efficiency of the differential diagnosis model for neurological diseases with similar symptoms to MS and other conditions. Results: This study included 167 patients in the case group and 335 patients in the control group, of which 128 patients in the case group and 265 patients in the control group were used to construct the model, and 39 patients in the case group and 70 patients in the control group were used for model validation. The differential diagnostic model constructed by a multivariate logistic regression model was Y=0.871×CSF-OCB-0.051×CSFprotein-0.231×CSFchloride+1.183×gender-0.036×LDH+35.770. The model showed that the area under the curve, sensitivity and specificity were respectively 0.916, 87.3% and 87.6%. The Delong test results showed that the diagnostic efficacy of the model was significantly different from OCB, IgG intrathecal synthesis indicators, and OCB combined with IgG intrathecal synthesis indicators (P<0.05). The new model validation showed that the actual diagnostic consistency rate for the MS group was 84.6%, while the actual diagnostic consistency rate for the control group was 90.0%. Conclusion: This study combines OCB, IgG intrathecal synthesis indicators, and biochemical indicators to establish a diagnostic prediction model for neurological diseases with similar clinical symptoms in MS. This model may have good differential diagnostic value and can better assist clinical diagnosis in the early stages of disease progression in MS patients.

Prevalence of ruptured small and very small aneurysms: a retrospective single-centre study.

To retrospectively assess the occurrence and consequences of subarachnoid haemorrhages (SAH) caused by ruptured intracranial aneurysms (RIA), particularly focusing on the treatment outcomes of small aneurysms treated with either endovascular embolisation or surgical intervention. We retrospectively analysed data from 408 patients (144 males and 264 females) who were hospitalised between 2013 and 2022 at the Department of Neurosurgery and Neurology in University Hospital Nr 2 in Bydgoszcz, Poland. Clinical conditions at admission, assessed using the Glasgow Coma Scale, Hunt-Hess scale (H-H), modified Rankin scale (mRS), as well as age and sex, were recorded. Additionally, aneurysm data including size, localisation, and the method and outcome of endovascular or surgical treatment were examined. Among the 408 patients hospitalised due to SAH, the most common localisation of the 375 RIAs was the anterior communicating artery (AcomA) complex (111 cases, 29.6%), followed by the medial cerebral artery (MCA) (95 cases, 25.3%), internal carotid artery (ICA) (94 cases, 25%), and the vertebrobasilar complex (consisting of the basilar artery (BA) - 25 cases, vertebral artery (VA) - 13 cases, anterior inferior cerebellar artery (AICA) - one case, and posterior inferior cerebellar artery (PICA) - four cases), which accounted for 43 SAH cases (11.46%). In 33 cases, neither RIA nor a haemorrhage source was identified, or arteriography showed no cerebral arteries contrast flow. Among the examined group of 375 RIAs, 45 (12%) were microaneurysms (≤ 3 mm), 35 (9%) were small aneurysms (3 ≤ 5 mm), 89 (24%) were medium-sized (5 ≤ 7 mm), and 151 (40%) were large aneurysms (> 7 mm), serving as the source of SAH. A better outcome was significantly associated with lower initial H-H grade (p < 0.001), higher GCS (p < 0.001), lower mRS at admission (p < 0.001), younger age (p < 0.001), smaller size (≤ 3 mm) (p < 0.001), and endovascular treatment (p < 0.001). In this series, over 21% of patients suffered from SAH resulting from ruptured small aneurysms (≤ 5 mm), with 12% specifically attributed to ruptured very small aneurysms (≤ 3 mm), despite large aneurysms (> 7 mm) being the most prevalent source of bleeding in 40% of cases. A worse prognosis was primarily associated with the severity of SAH, reflected in poorer clinical status at admission and older age. Endovascular embolisation was found to be effective and associated with better outcomes compared to surgical treatment.

Recovery of balance and walking in people with ataxia after acute cerebral stroke: study protocol for a prospective, monocentric, single-blinded, randomized controlled trial

IntroductionPosterior circulation stroke can lead to ataxia, manifesting in a loss of coordination and balance. Patients experience difficulty in activities of daily living and an increased risk of falling, both profoundly affecting quality of life. In individuals with neurodegenerative diseases, coordination exercises have been shown to lead to a reduction in ataxic symptoms. There is, however, limited evidence on the effect of physical therapy, specifically coordination exercises in patients with stroke-related ataxia. We therefore present a study protocol for a prospective trial.MethodsThe purpose of this trial is to investigate the effects of coordination exercises compared to standard physiotherapy on balance and walking in ataxic stroke patients. Therefore, a prospective, single-blinded randomized controlled trial is currently ongoing at the Clinical Department of Neurology, Medical University of Innsbruck, Austria, in collaboration with two local rehabilitation facilities in Austria, Hochzirl Hospital and the Clinic for Rehabilitation Münster. Balance is the primary outcome of the study as assessed using the Berg Balance Scale. Secondary outcomes are concerned with walking, risk and number of falls, independence in daily life, and quality of life, rated using appropriate scales and scores. Patients are allocated applying a 1:1 ratio and a stratified block randomization. In both groups recruited individuals undergo five 45-min treatment sessions per week, totaling 20 sessions of coordination exercises (IG) or standard physiotherapy (CG) over the course of 4 weeks. Data is collected at the baseline (T0), after the 4-week supervised practice (T1), and after another 8 weeks of independent home-based training (T2).DiscussionThis is the first randomized controlled trial investigating the effects of coordination exercises on balance and walking in people with stroke-related ataxia. As stroke guidelines emphasize the limited evidence of treatment for ataxic symptoms, this study aims to contribute further knowledge regarding tailored interventions for these patients.Clinical Trial RegistrationGerman Clinical Trials Registry (drks.de). Identifier: DRKS00020825.

An Approach to Successful Development of Clinician-Scientists in Neurology: The NINDS R25 Experience.

Training clinician-scientists is a primary objective of many academic neurology departments, as these individuals are uniquely positioned to perform insightful clinical or laboratory-based research informed both by clinical knowledge and their own experiences caring for patients. Despite its importance, training clinician-scientists has perhaps never been so challenging. The National Institute of Neurologic Disorders and Stroke (NINDS) R25 program was designed in an attempt to support these individuals, decrease the time needed to obtain National Institutes of Health K awards, and to help educate a cohort of trainees preparing for a career in academic neurology. We endeavored to describe the structure and features of the program while examining its outcomes. R25 outcome data from 2009 to 2024 were reviewed. Statistical comparisons were made using 2-sided Mann-Whitney U testing. A total of 67% of adult neurologists who received an R25 had a successful application for a National Institutes of Health K award compared with 45% of adult neurologists who had not received R25 support (p < 0.0001). Among child neurologists, 73% who applied went on to receive K funding after R25 support, compared with 45% who had not been part of the R25 program (p < 0.001). The average time between completion of residency and obtaining a K award for R25 participants was decreased by 26 months among those with an MD/PhD degree, and 32 months for those with an MD degree compared with non-R25 individuals. The R25 program has been successful in achieving its training goals, but stands as only one component of support for aspiring clinician-scientists. Investments and commitments made by academic neurology departments are key to supporting this success. ANN NEUROL 2024.

Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study

BackgroundThis study aimed to explore the demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases.MethodsThis retrospective cross-sectional study enrolled patients diagnosed with mitochondrial diseases from the Department of Neurology at Peking University First Hospital between January 2010 and December 2021. A questionnaire covering demographic characteristics, diagnostic dilemma, treatment, economic aspects, and caregiver stress was administered, and disability was assessed using the modified Rankin Scale (mRS).ResultsA total of 183 patients (mean age: 16 (IQR: 12–25), 49.72% males) were enrolled, including 124 pediatric patients and 59 adult patients. MELAS (106. 57.92%) and Leigh syndrome (37, 20.22%) were predominant among the mitochondrial disease subtypes. Among them, 132 (72.13%) patients were initially misdiagnosed with other diseases, 58 (31.69%) patients visited 2 hospitals before confirmed as mitochondrial disease, and 39 (21.31%) patients visited 3 hospitals before confirmed as mitochondrial disease. Metabolic modifiers were the most common type of drugs used, including several dietary supplements such as L-carnitine (117, 63.93%), Coenzyme Q10 (102, 55.74%), idebenone (82, 44.81%), and vitamins (99, 54.10%) for proper mitochondrial function. Mothers are the primary caregivers for both children (36.29%) and adults (38.98%). The mRS score ranged from 0 to 5, 92.35% of the patients had different degrees of disability due to mitochondrial disease. The average monthly treatment cost was 3000 RMB for children and 3100 RMB for adults.ConclusionsThis study provided valuable insights into the characteristics and challenges of mitochondrial diseases, which underscores the need for improved awareness, diagnostic efficiency, and comprehensive support for patients and caregivers.

“I didn’t even wonder why I was on the floor” – mixed methods exploration of stroke awareness and help-seeking behaviour at stroke symptom onset

IntroductionTo better target stroke awareness efforts (pre and post first stroke) and thereby decrease the time window for help-seeking, this study aims to assess quantitatively whether stroke awareness is associated with appropriate help-seeking at symptom onset, and to investigate qualitatively why this may (not) be the case.MethodsThis study conducted in a German regional stroke network comprises a convergent quantitative-dominant, hypothesis-driven mixed methods design including 462 quantitative patient questionnaires combined with qualitative interviews with 28 patients and seven relatives. Quantitative associations were identified using Pearson’s correlation analysis. Open coding was performed on interview transcripts before the quantitative results were used to further focus qualitative analysis. Joint display analysis was conducted to mix data strands. Cooperation with the Patient Council of the Department of Neurology ensured patient involvement in the study.ResultsOur hypothesis that stroke awareness would be associated with appropriate help-seeking behaviour at stroke symptom onset was partially supported by the quantitative data, i.e. showing associations between some dimensions of stroke awareness and appropriate help-seeking, but not others. For example, knowing stroke symptoms is correlated with recognising one’s own symptoms as stroke (r = 0.101; p = 0.030*; N = 459) but not with no hesitation before calling help (r = 0.003; p = 0.941; N = 457). A previous stroke also makes it more likely to recognise one’s own symptoms as stroke (r = 0.114; p = 0.015*; N = 459), but not to be transported by emergency ambulance (r = 0.08; p = 0.872; N = 462) or to arrive at the hospital on time (r = 0.02; p = 0.677; N = 459). Qualitative results showed concordance, discordance or provided potential explanations for quantitative findings. For example, qualitative data showed processes of denial on the part of patients and the important role of relatives in initiating appropriate help-seeking behaviour on patients’ behalf.ConclusionsOur study provides insights into the complexities of the decision-making process at stroke symptom onset. As our findings suggest processes of denial and inabilities to translate abstract disease knowledge into correct actions, we recommend to address relatives as potential saviours of loved ones, increased use of specific situational examples (e.g. lying on the bathroom floor) and the involvement of patient representatives in the preparation of informational resources and campaigns. Future research should include mixed methods research from one sample and more attention to potential reporting inconsistencies.

Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy

Objective: To summarize the genotype and clinical phenotype of children with WWOX gene related developmental and epileptic encephalopathy (DEE). Methods: Case series studies. The clinical data of 12 children with WWOX gene related DEE who were admitted to the Neurological Department of Children's Medical Center, Peking University First Hospital from June 2019 to December 2023 were analyzed. The children's characteristics of gene variation, clinical phenotype, auxiliary examination results, treatment and prognosis were analyzed. Results: Among 12 children with WWOX gene related DEE, there were 7 boys and 5 girls, the age of seizure onset ranged from 10 days to 6 months (median 1.8 months). Multiple seizure types were observed, including focal seizures in 10 cases, epileptic spasms in 9 cases, tonic seizures in 4 cases, myoclonic seizures in 1 case. Among 12 cases, 9 cases had multiple seizure types. All 12 cases showed microcephaly and global developmental delay. Video electroencephalography showed slowed background activity in 6 cases, hyperarrhythmia in 6 cases, multifocal discharges in 6 cases, and focal discharges in 1 case. Epileptic spasms were detected in 8 cases, tonic seizures in 4 cases and myoclonic seizures in 1 case. Brain magnetic resonance imaging showed bilateral frontotemporal subarachnoid space widening in 5 cases, deep sulci in 3 cases, bilateral ventricular enlargement in 2 cases, callosal hypoplasia in 5 cases, and delayed white matter myelination in 3 cases. The phenotypes of 12 cases were consistent with the diagnosis of DEE, and 8 of them were diagnosed with infantile epileptic spasm syndrome. All the WWOX gene variants in 12 cases were complex heterozygous variants, including 20 variants, 11 variants and 1 large intragenic WWOX gene deletion (p.Ala149Thr, p.Arg156Ser, p.R167Tfs*8, p.Leu186Val, c.605+5G>A, p.Trp218*, p.His263Arg, p.Leu275fs*19*1, p.N285Kfs*10, p.Ser304Tyr, p.Met326Arg, loss1 exon2-8) had not been reported previously. The age of last follow-up ranged from 11 months to 5 years and 3 months. During the follow-up, 1 case died at the age of 1 year and 10 months, 2 cases were seizure-free, and 9 cases still had seizures after multiple anti-seizure medications. Conclusions: The seizure onset age of children with WWOX gene related DEE is usually less than 6 months, and some of them in neonate. The common seizure types include focal seizures and epileptic spasms. Children usually have microcephaly and global developmental delay. WWOX gene related DEE usually has drug refractory epilepsy.

Social Cognition, Executive Functioning, Mood, and Disability in Cervical Dystonia.

Individuals with idiopathic adult-onset isolated cervical dystonia (CD) may have cognitive difficulties and increased mood challenges. Social cognition and executive functioning may be particularly affected. To explore social cognition and executive functioning performance in individuals with CD, using the Cambridge Neuropsychological Test Automated Battery (CANTAB), as previous research has used traditional, nondigital neuropsychological assessments. We sought to investigate the relationships between social cognition, executive functioning, mood, and disability in individuals with CD. We recruited 37 individuals with CD, including 26 women with an age range of 33 to 69 years (M = 56.64, SD = 8.31) from a dystonia clinic in a hospital neurology department. The individuals completed selected tasks from the CANTAB measuring social cognition and executive functioning. We compared the individuals' performance with CANTAB normative data. Depression, anxiety, disease severity, and disability were measured. The individuals with CD had significantly lower scores than the CANTAB normative data in both social cognition and executive functioning tasks, with the largest differences evident in problem-solving, attention, and positive emotion bias tasks. Poorer emotion recognition was associated with increased difficulties in problem-solving tasks. The individuals demonstrated a bias toward identifying happiness in facial affect, which was related to a poorer recognition of emotions. Cognitive performance was not related to CD severity or disability or to current mood symptoms. Difficulties with both social cognition and executive functioning were identified in the individuals with CD, and are likely important targets for clinical interventions.