Neurology Asia

Blood-nerve barrier: Structure and opening

Tao Sun — 2024-12-25

Like the blood-brain barrier and blood-spinal cord barrier, the blood-nerve barrier (BNB) is one of the crucial tissue barriers of the nervous system. It plays a vital role in homeostasis, physiological protection, and pathological reactions. Various factors, such as biological, physical, and chemical factors, can lead to transient or permanent dysfunction of the BNB. With the advancements in biological techniques and the growing peripheral nerve injuries such as trauma and diabetic peripheral neuropathy, the BNB has gained increasing attention. Moreover, the defensive function of the BNB impedes therapeutic deliveries and anesthetic drugs, which compromises the therapeutic experiences and life quality. It should be noted that numerous pathways are involved in the microstructure, function, and opening of the BNB, but the true underlying molecular mechanisms are still under constant exploration and investigation. This review summarizes the microstructure, and signaling pathways of the BNB, and thoroughly discusses the transient or permanent disruptions of the BNB in both physiological and pathological conditions.

Clinical significance of elevated serum cardiac troponin T and associated risk factors in patients diagnosed with acute ischemic stroke

Qin Guo — 2024-12-25

Objective: We explored the clinical significance and associated risk factors of increased levels of serum cardiac troponin T (cTnT) in individuals suffering from acute ischemic stroke (AIS).

Methods: Our study subjects consisted of patients who were admitted with AIS within 48 hours of its onset. These study participants were categorized based on their levels of cTnT into two groups: normal cTnT group and elevated cTnT group. We collected and subjected a range of data to statistical analysis, including general clinical traits, medical history, laboratory test results, electrocardiograms, imaging scans, and medical records like the National Institute of Health Stroke Scale (NIHSS) scores of the patients.

Results: Out of the 232 patients diagnosed with AIS, 84 individuals (36.21%) exhibited raised levels of cTnT. When comparing this elevated cTnT cohort to the group with regular cTnT levels, those with elevated cTnT were older [with a median age of 76 year (interquartile range: 67 to 83) as compared to 70 year interquartile range: 61 to 79), P = 0.002], and they presented with higher NIHSS scores upon admission [8.5 (interquartile range: 4 to 14) compared to 5 (interquartile range: 2 to 9), p = 0.002]. In addition, a larger percentage of patients in the elevated cTnT group had both coronary artery disease (23.81% vs. 7.43%, P < 0.001) and cardiac insufficiency (25.00% vs. 3.38%, P < 0.001) as comorbidities. Meanwhile, the elevated cTnT group also displayed a higher occurrence of electrocardiogram abnormalities, including bundle branch block (29.76% vs. 9.46%, P < 0.001) and atrial fibrillation (32.14% vs. 11.49%, P < 0.001), in comparison to the normal cTnT group. The clinical data and related laboratory indicators of patients were collected for risk factor analysis, which showed that bundle branch block [odds ratio (OR) = 4.17, 95% confidence interval (95%CI) = 1.43–12.16), log to base 10 N-terminal pro-brain natriuretic peptide (Log10NT-proBNP; OR = 3.41, 95%CI = 1.62-7.16), cystatin C (OR = 6.86, 95%CI = 2.01–23.43), and neutrophil/lymphocyte ratio (OR = 1.13, 95%CI = 1.02–1.25) were independent risk factors for elevated cTnT in patients with AIS.

Conclusions: Older patients with AIS who had higher levels of cTnT exhibited more severe neurological impairments and a greater number of comorbidities. Furthermore, an elevated cTnT in patients with AIS may be linked to cardiac insufficiency, changes in kidney function, and signs of inflammation.

Efficacy of novel haemogram parameters in the evaluation of inflammation in acute ischemic stroke

Isıl Yazıcı Gencdal — 2024-12-25

Objective: Inflammation in ischemic brain tissue is the primary factor contributing to the pathogenesis of acute ischemic stroke (AIS). This study aimed to investigate the role of new inflammatory parameters—immature granulocyte count (IGc) and the systemic immune-inflammation index (SII)—in determining the presence of inflammation and the subtype, severity, and prognosis of AIS.

Methods: This retrospective study was conducted using data from 124 patients with AIS and 126 healthy controls. The severity at stroke onset and the functional outcome after at least 3 months of follow- up were determined. Patients with AIS were subdivided into subgroups according to aetiology. The following haemogram parameters were compared between the AIS and control groups: haemogram parameters; white blood cell (WBC) count, haemoglobin (Hgb), haematocrit (HCT), mean platelet volume (MPV), platelet count (PLT), PCT (plateletcrit), lymphocyte and neutrophil count, RDW-CV (red cell distribution width coefficient of variation), neutrophil/lymphocyte ratio (NLR), MPV/PLT ratio, PLT/lymphocyte ratio (PLR), WBC/MPV ratio (WMR), IGc and IG percentage (IG%), and SII values.

Results: The parameters WBC, IGc, IG%, RDWCV, neutrophil count, NLR, WMR, and SII values were significantly higher in the AIS group than in the control group. We found significant correlations between high SII value and high clinical NIHSS scores at stroke onset, mRS obtained after at least a 3-month follow-up period.

Conclusion: IGc and SII may be new parameters to evaluate the presence of inflammation in patients with AIS. A higher SII was associated with higher stroke severity, and it may be useful for predicting adverse clinical outcomes.

Medical management versus intravenous thrombolysis for patients with minor non-disabling acute ischemic stroke: A systematic review and meta-analysis

Zhuyan An — 2024-12-25

Background: The efficacy and safety of thrombolysis therapy in patients with mild stroke, especially acute non-disabling stroke is controversial. We intend to conduct this systematic review and meta- analysis to evaluate the efficacy and safety of thrombolytic therapy compared to medical management in acute non-disabling stroke.

Methods: We searched multiple databases to obtain articles related to medical management and intravenous thrombolysis therapy for minor non-disabling acute ischemic stroke from inception until November 28, 2023, and the search was conducted again on September 1, 2024. The primary outcome was functional independence (modified Rankin scale [mRS] score of 0 to 2) at 90 days. All analyses were performed using the random effect model. The quality of articles was evaluated through the Cochrane risk assessment tool and Newcastle-Ottawa scale.

Results: 2 RCTs and 7 cohort studies met the inclusion criteria. The merge analysis showed that there was no significant difference in improving functional independence (mRS 0-2, RR: 1.01, 95% CI 0.98 - 1.04, P = 0.47) and excellent outcome (mRS 0-1) of patients with minor non-disabling acute ischemic stroke between IVT and medical management. However, IVT would increase the risk of early neurological deterioration (RR: 0.50, 95% CI 0.30 - 0.82, P = 0.007), compared to medical management. Analysis of the cohort studies showed that there was a significant correlation between IVT and sICH (RR: 0.20, 95% CI: 0.06 - 0.68, P=0.01).

Conclusions: For patients with minor non-disabling acute ischemic stroke, medical management will not have a negative impact on functional recovery, and may be a safer alternative.

Comparison of safety and efficacy outcomes of intravenous thrombolysis in posterior vs. anterior circulation stroke

Lingyan Chen — 2024-12-25

Background & Objectives: Most previous large clinical studies of intravenous thrombolysis (IVT) focused on anterior circulation stroke (ACS). However, the results from ACS studies cannot fully represent posterior circulation stroke (PCS) patients due to their differences in symptoms, signs and etiologies. This study aimed to compare whether there are differences in thrombolysis outcomes between ACS and PCS patients who underwent IVT alone, and to explore predictors of outcomes in PCS after IVT.

Methods: We included acute ischemic stroke (AIS) patients who underwent IVT and divided them into ACS and PCS groups according to clinical symptoms and neuroimaging examinations. A series of baseline data were collected while symptomatic intracranial hemorrhage (sICH), hemorrhagic cerebral infarction (HI), parenchymal hemorrhage (PH), all intracranial hemorrhage (aICH), mortality and the modified Rankin Scale (mRS) score were employed to assess thrombolysis outcomes.

Results: Among 321 IVT-treated AIS patients, 87 had PCS. The incidence of sICH (1.1% vs. 9.8%, p=0.007), PH (1.1% vs. 9.8%, p=0.007), and aICH (4.6% vs. 15.8%, p=0.008) were lower in PCS than in ACS. A higher proportion of PCS achieved an excellent recovery (56.3% vs. 43.6%, p=0.042) and functional independence (66.7% vs. 53.8%, p=0.039) at 3 months poststroke. Logistic regression analysis identified the National Institutes of Health Stroke Scale (NIHSS) score (p<0.001) and pre-event antiplatelet therapy (p=0.005) as significant predictors of excellent recovery and the NIHSS score (p<0.001) as a unique predictor of functional independence at 90 days in PCS.

Conclusions: PCS patients had a lower risk of intracranial hemorrhage complications and better functional outcomes after IVT alone.

A new nomogram for predicting the prognosis based on 24-hour blood pressure variability after intravenous thrombolysis

Zi-Qing Liu — 2024-12-25

Background & Objective: There is insufficient research on the use of population data to construct a predictive model of blood pressure variability (BPV) after thrombolysis to estimate the subsequent development of acute ischemic stroke (AIS) patients. The aim of this study is to construct and validate a model that uses BPV 24 hours after thrombolytic therapy to predict outcome in patients with AIS.

Methods: To construct and validate a model that uses BPV 24 hours after thrombolytic therapy to predict outcome in patients with AIS.

Results: A total of 503 patients with acute ischemic stroke who received intravenous thrombolytic therapy were enrolled in the study. The multivariate analysis outcomes have delineated several pivotal factors that are significantly prognostic of adverse outcomes in AIS patients post-thrombolysis: The initial National Institutes of Health Stroke Scale score, a recorded history of hypertension, the variability in systolic and diastolic blood pressure as indicated by their standard deviation, and the blood pressure measurements recorded 24 hours subsequent to thrombolytic therapy. These determinants have emerged as substantial predictors, shedding light on the complex interplay of clinical parameters that influence patient prognosis following AIS treatment. Within the development and validation cohorts, the area under the curve for the nomogram, which estimates the probability of an unfavorable prognosis, was determined to be 0.876 (95%CI: 0.84–0.913) and 0.849 (95%CI: 0.784–0.913), respectively. The calibration curve revealed a striking congruence between the predicted probabilities by the nomogram and the actual outcomes observed in the validation set. Furthermore, the decision curve analysis underscored the significant clinical utility and robust applicability of the prognostic model, illustrating its potential to guide clinical decision-making effectively.

Conclusion: Because of its superior predictive accuracy, discriminative power, and clinical utility, the nomogram is an important adjunct tool for the assessment of possible adverse outcomes in patients with AIS following thrombolytic therapy.

Risk factors and secondary prevention interventions for recurrence of acute cerebral infarction within half a year after rhTNK-tPA treatment

Chengyuan Gao — 2024-12-25

Objective: To investigate the risk factors for the recurrence of acute cerebral infarction (ACI) within half a year after treatment with recombinant human TNK tissue-type plasminogen activator (rhTNK- tPA) and secondary prevention.

Methods: A total of 84 patients with ACI treated with rhTNK-tPA in our hospital from March 2023 to April 2024 were selected for the study. The patients were divided into a recurrence group and a non-recurrence group according to whether they recurred within half a year after treatment. The clinical data of the two groups of patients were compared, and the risk factors of recurrent cerebral infarction were analyzed. The risk prediction model of the nomogram was constructed by incorporating the risk factors and its effectiveness was verified. Model discrimination was assessed by using the receiver operating characteristic curve (ROC). Model fit was evaluated with calibration curves. Hosmer-Lemeshow (HL) analysis was applied to assess model consistency. At the same time, the effect of secondary prevention on the recurrence rate was explored.

Results: There were 20 patients with a recurrence of ACI, and the recurrence rate was 23.81%. Multivariate Logistic regression analysis showed that the risk factors of recurrence in patients with ACI included age ≥ 70 years, smoking, hypertension, diabetes, irregular or never using antiplatelet drugs (P<0.05). The prediction model of the nomogram was constructed according to the above indexes. The area under the curve (AUC) of the model’s training and test sets for predicting recurrence within six months in patients with acute cerebral infarction was 0.918 (95%CI: 0.848-0.988) and 0.850 (95%CI: 0.703-0.997). At the same time, the HL test showed good goodness of fit (χ2 =1.684, P = 0.989). The calibration curves indicated good agreement between the predicted values of the nomograms and the actual observed values. The recurrence rate of ACI patients who took secondary prevention measures was lower than that of patients who did not take corresponding measures (P<0.05).

Conclusions: Patients with ACI have a high recurrence rate within half a year. Age ≥70 years, smoking, hypertension, diabetes, irregular or never use of antiplatelet drugs are risk factors for recurrence. The prediction model of nomogram combined with 5 indicators can be used as an accurate and rapid clinical evaluation tool. The recurrence rate can be reduced by taking corresponding secondary prevention interventions for patients.

Effect of metabolic syndrome on outcomes in vertebrobasilar artery occlusions following endovascular treatment: findings from the PERSIST registry

Yu Wang — 2024-12-25

Background: Acute vertebrobasilar artery occlusion (VBAO) is associated with severe neurological dysfunction and high mortality rates. Endovascular treatment (EVT) is a highly effective VBAO approach in the initial treatment window. However, predicted factors influencing the outcomes of VBAO patients who undergo EVT remain unknown. Our study aims to assess the impact of metabolic syndrome (Mets) on VBAO after EVT and to determine whether this factor can be influenced by reperfusion time.

Methods: This retrospective study included a cohort of 569 patients with acute VBAO after EVT, who were enrolled across 21 stroke centers in China. The diagnosis of Mets was determined using the criteria established by the National Cholesterol Education Program (NCEP). The primary outcome was favorable outcome, defined as a modified Rankin Scale score of 0-3 at 90 days post-treatment. To assess the impact of Mets and reperfusion time on the prognosis of VBAO patients, multivariable logistic regression analysis was performed. Safety outcomes, including symptomatic intracranial hemorrhage (sICH), in-hospital mortality, and 1-year mortality, were also evaluated.

Results: Three hundred and thirty-four (58.70%) were being identified as having Mets in total 569 patients. After adjustment for potential confounding factors, a significant association appeared between Mets and favorable outcome at 90 days (OR, 0.547 [0.371, 0.807], p = 0.002). Additionally, the interaction was found between Mets and puncture to reperfusion time (PTR), which co-affects the favorable outcome (p for interaction < 0.001).

Conclusions: VBAO patients with Mets have poor prognosis after being treated with EVT, with this prognosis more sensitive to PTR.

Stent-retriever alone vs. combined technique with balloon guide catheter in large vessel occlusion stroke: A single center experience

Baki Dogan — 2024-12-25

Background: Today, balloon guide catheters are widely used in thrombectomies. This study aimed to compare the demographic, angiographic, and clinical outcome parameters of thrombectomy for anterior circulation large vessel occlusion strokes (LVOS) using a first-line stent retriever (SR) alone with those of a thrombectomy using a technique combining a balloon guide catheter (BGC) with a distal access catheter (DAC) and an SR.

Methods: We retrospectively analyzed the data of patients who had experienced anterior circulation LVOS and underwent mechanical thrombectomy with a BGC at our stroke center between January 2015 and December 2022. The patients were divided into two groups based on the techniques used in the thrombectomy: a stent retriever alone (BGC+SR) and a combined approach (BGC+DAC+SR). Baseline characteristics, procedure details, angiographic results, and clinical outcomes were assessed. The primary clinical outcome in this study was the rate of functional independence (mRS score ≤2) at 90 days. The primary technical outcome was the rate of first pass effect (FPE), defined as achieving near complete/complete revascularization (modified thrombolysis in cerebral infarction [mTICI] 2c-3) after a single treatment pass. Secondary outcomes included mortality at 90 days, procedural complications, embolic complications, and symptomatic intracranial hemorrhage.

Results: Out of 234 patients, 137 (58.6%) were in the BGC +SR group, while 97 (41.4%) were in the BGC+SR+DAC group. Patients treated with BGC and SR alone were younger (median age 58 vs. 61 years, p=0.005) and had a higher prevalence of middle cerebral artery occlusions (M1 segment: 64.9% vs. 37.5%; M2 segment: 14.9% vs. 5.2%, p<0.001) compared to those in the combined group. The BCG+SR group had a greater incidence of cardioembolism and embolic stroke of undetermined source (49.3% vs. 41.1%, 26.5% vs. 12.6%, respectively, p=0.007). The median NIHSS of the entire population was 15 (IQR, 11–18), and 108 (46%) patients received intravenous thrombolytics before thrombectomy. The patients treated with the combined technique tended to have higher rates of FPE compared to those in the BGC+SR (47.4% vs. 35.8%, p=0.074) and higher rates of successful (≥mTICI 2b) and excellent (≥mTICI 2c) recanalization overall (93.8% vs. 90.5% p=0.504; 78.4% vs. 71.5%, p=0.306, respectively). The groups had similar rates of good clinical outcome (mRS 0-2) and mortality at 90 days (61.7% vs. 53.3%, p=0.21;14.3% vs. 18.7%, p=0.495, respectively) with comparable rates of complications. Multivariate analyses identified higher baseline Alberta Stroke Program Early CT scores (OR=1.19; 95% CI, 1.09–1.28) and middle cerebral artery M1 occlusion locations (OR=1.90; 95% CI, 1.45–2.42) as independent predictors of first-pass success.

Conclusion: In this study, treating acute ischemic strokes with an anterior system large vessel occlusion using a thrombectomy technique employing a BGC with an SR resulted in similar recanalization and FPE rates as using a technique employing a BGC in combination with an SR and a DAC. Both first-line strategy techniques had similar rates of good clinical outcome (mRS score ≤2) and mortality at 90 days.

CT swirl sign in primary intracerebral haemorrhage and association with haematoma expansion

Salahuddin Kamaruddin — 2024-12-25

Background & Objective: Haematoma expansion is an important predictor of poor clinical outcomes for primary acute intracerebral haemorrhage (ICH). Swirl sign is described as an area which is hypodense or isodense surrounded by hyperdense acute haemorrhage. This study aimed to describe swirl sign in ICH, its prevalence and to determine if the presence of swirl sign, swirl volume and the ratio of swirl to initial haematoma volume are associated with haematoma expansion and to predict clinical outcome in ICH.

Methods: One hundred and sixty-three patients who had spontaneous ICH with initial (CT1) and repeat CT (CT2) within 96 hours were included. Presence of swirl sign, its volume and the ratio of swirl volume over haematoma volume in initial and repeat CT were calculated using semi auto-segmentation from ‘ITK snap’. Statistical analysis using Spearman’s correlation coefficient and chi-square test were done to assess the relationship between the data parameters with haematoma expansion as well as functional outcome and mortality at 1 month.

Results: Chi-square test showed a significant association between the presence of swirl sign with the haematoma expansion (p < 0.001) and mRS score at 1 month (p < 0.05). Spearman correlation showed a significant moderate correlation between swirl sign and volume of haematoma expansion (r = 0.518, p < 0.001). Ratio of swirl volume/initial haematoma volume demonstrated low correlation but however significant with haematoma expansion (r=0.28 p < 0.05).

Conclusion: Swirl sign, its volume as well as the ratio of swirl volume over initial haematoma are associated with haematoma expansion. It can be used as a predictor of mortality and functional outcome at one month.

Comparison of efficacy and safety of neuroendoscopic surgery and minimally invasive puncture surgery in the treatment of spontaneous cerebral hemorrhage: A meta-analysis

Jun Wang — 2024-12-25

Objective: To compare the efficacy and safety of neuroendoscopic surgery and minimally invasive puncture surgery in the treatment of spontaneous cerebral hemorrhage.

Methods: The English databases, including PubMed, OVID, EMBASE, Cochrane Library, and the Chinese databases, such as CNKI, Wanfang and Weipu, were computer searched to collect the relevant literature on the treatment of spontaneous cerebral hemorrhage by neuroendoscopic surgery and minimally invasive puncture surgery. The included literature was meta-analyzed using Stata 17.0 software.

Results: A total of 10 articles were included in the study. There were 344 patients in the neuroendoscopy group and 419 patients in the minimally invasive puncture group. Compared with the minimally invasive puncture group, the clearance rate of postoperative hematoma in the neuroendoscopy group was higher (MD = 19.71; 95% CI 4.84-34.57, Z = 2.60, P = 0.01 < 0.05), the amount of hematoma cleared was higher (MD = 16.5; 95% CI 5.95-27.04, Z = 3.07, P = 0.001 < 0.05), mRS score was lower (MD = -0.49; 95% CI -0.76 to -0.21, Z = -3.42, P = 0.001 < 0.05); GCS score was higher (MD = 0.74; 95% CI 0.05-1.43, Z = 2.09, P = 0.04 < 0.05). However, the operation time was longer (MD = 51.44; 95% CI 37.44-65.44, Z = 7.20, P = 0.0001 < 0.05) of patients in the neuroendoscopy group than those in the control group.

Conclusion: Neuroendoscopic surgery is superior to minimally invasive puncture surgery in the treatment of spontaneous intracerebral hemorrhage in hematoma clearance and clearance rate, postoperative recovery, and postoperative consciousness recovery. Neuroendoscopic surgery has better efficacy and safety.

Age and method-specific differences in the efficacy of non-invasive brain stimulation in patients’ post-stroke limb spasticity: a meta-analysis

Xiaorong Cao — 2024-12-25

Objective: The aim of this study was to evaluate the effectiveness of two non-invasive brain stimulation (NIBS) methods, repetitive transcranial magnetic stimulation (rTMS) and transcranial direct current stimulation (tDCS), on spasticity in post-stroke patients with respect to patient age and muscle type.

Methods: This meta-analysis was performed according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines. PUBMED (MEDLINE), Web of Science, Cochrane Library, and ExcerptaMedica Database (EMBASE) were searched for all randomized controlled trials (RCTs) published before December 2023.

Results: In patients with spasticity after stroke, both rTMS (SMD: -0.56, CI95%: -0.81, -0.31, P<0.0001) and tDCS (SMD: -0.74, CI95%: -0.89, -0.59, P=0.005) significantly reduced the modified Ashworth Scale (MAS) compared with the control group. rTMS and tDCS were more effective in patients < 60 years than those > 60 years. Both rTMS and tDCS were effective against upper limb spasticity, particularly in patients aged < 60 years. Chronicity of stroke did not affect the benefit of rTMS to reduce spasticity although tDCS was more effective at 2 months after stroke onset. The reduction in spasticity in patients with supratentorial lesions was demonstrated by tDCS. The effectiveness of rTMS in spasticity reduction was not affected by the stimulation rate, but the use of tDCS at < 2 mA significantly decreased spasticity. Anodal stimulation (tDCS) reduced spasticity after stroke, especially in patients < 60 years of age. Other therapies, such as robotic therapy, the use of virtual reality, and electroacupuncture, were less effective against spasticity than conventional physical therapy combined with tDCS. The effectiveness of rTMS in spasticity reduction was not affected by the level of development, although tDCS was more successful in developing countries.

Conclusions: Our findings suggest that NIBS should consider age, methods, and muscle type when treating patients with limb spasticity after stroke.

Withdrawal of antiseizure medications in patients who are seizure-free

Can Ulutaş — 2024-12-25

Objective: To evaluate the demographic data and resolved-relapse rates in clinical follow-up of patients whose antiseizure medications (ASM) were discontinued after a minimum of 2 years of seizure freedom.

Methods: The files of 1985 patients followed in the epilepsy outpatient clinic were evaluated retrospectively. The inclusion criteria for patients were between 18 and 65 years old, followed up at an epilepsy outpatient clinic, and having discontinued ASM after at least 2 years of seizure freedom under the supervision of a neurologist.

Results: A total of 56 patients were included in the study. The age of onset of seizures was 13.9±10.04 years, the age of onset of ASM was 15.87±9.69 years, and the age of quitting ASM was 24.58±11.54 years. The patients had a mean seizure-free period of 64.46±32.27 months before drug discontinuation and 43.73±38.87 months after drug discontinuation. The EEGs of 49 patients were normal in the EEGs performed after drug discontinuation, and seven patients had epileptiform discharges. Relapse was observed in 23.2% of patients after drug discontinuation. It was observed that 69% of the recurrences in 13 patients occurred within the first 2 months.

Conclusion: Although seizure recurrence probability is highest during the first 2 months after ASM discontinuation, it is still possible 6 years later in adults with inactive epilepsy. The time window without seizures before ASM discontinuation and follow-up EEGs afterwards may help in the prediction of seizure recurrence.

Parental stress, coping mechanisms and predictors of parental stress among parents of children with epilepsy

Hemalatha S — 2024-12-25

Objectives: To investigate the parental stress and coping mechanisms in parents of children with epilepsy (CWE) and to determine the predictors of parental stress.

Methods: Parents of CWE (n=323) were evaluated for parental stress (PS) with a modified Abidin’s parental stress index short-form scale (PSI-SF) and the coping mechanisms by modified ways of coping of Folkman and Lazarus. PS was defined by calculating 90 percentile values of the PSI total score.

Results: A significantly higher mean parental stress index total and parenting distress subscale score was observed in females than in males. The percentage of PS was 10.52% among the parents of CWE. Distancing was the dominant coping mechanism used by the parents of CWE. Type of family, seizures, duration of illness, number of drugs used, seizure-related injuries, neighbour know child taking antiepileptic drugs and seeking social support were found to be the significant predictors of parental stress in the combined group. Seeking social support was found to be the common predictor for PS in both sexes, whereas duration of illness and number of drugs used were specific to females only.

Conclusions: Interventions need to be designed to improve the mental health and information seeking among the parents of CWE to reduce parental stress and to improve the quality of life of the caregiver and the cared.

Giant axonal neuropathy: A rare disease hidden in polyneuropathy

Arzu Eroglu — 2024-12-25

Background& Objective: Giant axonal neuropathy (GAN) is a serious progressive neurodegenerative disease. The aim of this study is to evaluate the frequency and phenotypic-genotypic characteristics of GAN patients, which, like many rare diseases, is disguised under the name of polyneuropathy, and to present our experience.

Methods: In this retrospective observational study, 105 pediatric patients with polyneuropathy were screened. Demographic characteristics and clinical diagnoses were reviewed. The mean age of the patients was 10.9 years (2-18), 59 were boys (56%) and 46 were girls (44%). GAN patients who were genetically diagnosed by single gene analysis were clinically evaluated in detail.

Results: Regarding the etiology of polyneuropathy, 43% of patients had acquired and 57% had hereditary causes. Among hereditary cases, 29% had an unknown diagnosis, and 5% were diagnosed with GAN, presenting first with gait disturbance. These patients exhibited axonal sensorimotor polyneuropathy and diverse hair types (20% straight, 20% kinky, 40% curly, 20% slightly curly). Findings included carious teeth (40%), hyperplexia (20%), and apnea (20%). Disease progression included worsening scoliosis and limb deformities (pes cavus), with pathological cranial MRI findings. Literature identified 5 GAN patients with a homozygous deletion of GAN gene exon 2-5, classified as likely pathogenic (Class 4).

Conclusion: This study highlights the frequency of GAN among undiagnosed polyneuropathies in childhood. Although the phenotype-genotype correlation for giant axonal neuropathy has not yet been determined, we hope that further studies in the field of molecular biology will increase the chances of a better quality of life.

Impact of neuropathic pain on sleep quality in earthquake-related peripheral nerve injuries

Sıdıka Büyükvural Şen — 2024-12-25

Objective: Natural disasters such as earthquakes often cause sleep disorders in affected individuals. Neuropathic pain seen in traumatic peripheral nerve injuries has been found to be associated with sleep disorders. This study aimed to evaluate the impact of neuropathic pain on sleep quality in patients who sustained peripheral nerve injuries during the Kahramanmaraş-centered earthquake that occurred on February 6, 2023, and were rescued from under the rubble.

Method: The study included 45 earth-quake survivors with electrophysiologically confirmed peripheral nerve injuries, aged 18 and above. Pain was assessed using the Visual Analog Scale (VAS) scores, and the presence of neuropathic pain was evaluated using the Turkish version of the Leeds Assessment of Neuropathic Symptoms and Signs (LANSS). Sleep quality was assessed using the Pittsburgh Sleep Quality Index (PSQI) and anxiety and depression levels were evaluated using the Hospital Anxiety and Depression Scale (HADS).

Results: Among earthquake victims who suffered peripheral nerve injuries, 31 out of 45 people (69%) were found to experience neuropathic pain. Among the earthquake survivors with poor sleep quality (PSQI≥5), the duration of entrapment under the rubble, the extremity VAS scores, the LANSS scores, and the HADS depression and anxiety scores were significantly higher (p=0.018, p=0.001, p=0.008, p=0.001, and p<0.001, respectively). The LANSS scores had positive, moderately significant correlations with the extremity VAS and PSQI scores (r=0.356, p=0.016 and r=0.486, p=0.001, respectively).

Conclusion: This study shows that the intensity of neuropathic pain due to peripheral nerve injuries is high in earthquake victims has poor sleep quality. There is a need to develop targeted interventions addressing the unique challenges faced by earthquake survivors with peripheral nerve injuries.

Decreased serum IL-16 and increased serum TSG-14 levels in myasthenia gravis

Linqi Liu — 2024-12-25

Background: Myasthenia gravis (MG) is an autoimmune disease characterized by an imbalance between inflammatory mediators and immune cells. The diagnosis and assessment of disease severity require the aid of more specific biomarkers.

Methods: Utilizing the Luminex assay, we quantified the serum levels of CD137, galectin-9, MMP12, TSG14, IL-16, IL-31, and IL-34 in a cohort of 157 participants, which comprised 98 patients with MG and 59 healthy controls (HCs). Correlation analyses were performed to examine the relationship between serum IL-16 and TSG-14 levels and clinical outcomes.

Results: Serum levels of IL-16 were significantly lower in MG patients compared to the HC group (median [inter-quartile range (IQR)], 102.1 [73.58–126.7] pg/mL versus 162.4 [95.72–312.7] pg/ mL, P < 0.0001). Conversely, the serum concentration of TSG-14 was significantly higher in MG patients than in HCs (1249 [809.3–2134] pg/mL versus 883.0 [512.5–1264] pg/mL, P = 0.0035). No significant differences were observed in the serum levels of CD137, galectin-9, IL-31, IL-34, and MMP12 between MG patients and HCs. Correlation analysis revealed a negative correlation between serum IL-16 levels and Quantitative Myasthenia Gravis (QMG) scores, as well as Activities of Daily Living (ADL) scores; TSG-14 displayed a positive correlation with QMG scores.

Conclusion: Serum IL-16 concentrations were reduced, whereas TSG-14 concentrations were elevated in MG patients. These findings suggest that these serum proteins can potentially serve as biomarkers for assessing disease severity in MG patients.

Inferring microarray datasets reveals critical biomarkers and potential drug targets of Parkinson’s disease

Anuradha Bhardwaj — 2024-12-25

Parkinson’s disease (PD) is a critical neurological disorder characterized by loss of voluntary motor control and substantial slowing of movement. While traditionally attributed to environmental factors, recent studies underscore the significant role of genetics in the onset and progression of PD. This study aimed to identify differentially expressed genes (DEGs) and relevant pathways in PD by analyzing gene expression data from four datasets (83 PD and 53 control substantia nigra samples) sourced from the Gene Expression Omnibus (GEO) database. Using GEO2R, we identified common DEGs and performed functional annotation and KEGG pathway enrichment analysis through Enrichr. We constructed a protein–protein interaction (PPI) network using StringDB and identified hub genes via CytoHubba. Results revealed 18 critical DEGs enriched in pathways such as dopaminergic synapse and cocaine addiction. Key hub genes included Tyrosine Hydroxylase (TH), Solute Carrier Family 18 Member A2 (SLC18A2), and Potassium Inwardly Rectifying Channel Subfamily J Member 6 (KCNJ6). These findings provide insights into the molecular mechanisms of PD, highlighting potential biomarkers and therapeutic targets. This study offers a robust framework for future research and the development of effective treatment strategies for Parkinson’s disease.

Evaluation of atrophy after botulinum toxin injection in cervical dystonia by MRI

Mehri Salari — 2024-12-25

Objectives: Cervical dystonia (CD) is one of the most common forms of dystonia seen clinically, Botulinum neurotoxin type A (BoNT) is known as the first-line therapy for CD. One of the most critical side effects of chronic exposure to BoNT is developing muscle atrophy which causes cosmetic issues and future injection difficulty. In this study, we examined the degree of atrophy caused by botulinum toxin injection, as the most effective treatment of CD, and the factors affecting it to reduce atrophy.

Methods: Patients underwent treatment by injecting standard doses of BoNT for 12 months. Soft-tissue cervical MRI was performed for seven patients before treatment and 12 months later. Sternocleidomastoid and splenius capitis in the transverse cut in T1 MRI view were measured in MRIs for each patient, and muscle atrophy volume was calculated.

Results: Two patients were male, five were female, and the mean age was 40 ± 12.76 years. The amount of atrophy increased significantly with increasing injection dose and frequency. Muscular atrophy was significantly higher in people older than 50 years, but gender and body mass index (BMI) had no significant effect.

Conclusion: Muscular atrophy is more likely in older patients, those treated with higher doses of BoNT, and those who received more frequent injections.

Utility of high-dose clonidine in managing pediatric dystonia: A case series in a multi-ethnic Asian population

Guo Yong Lim — 2024-12-25

Background: Dystonia is a debilitating movement disorder. Clonidine, an alpha-2 agonist, is reported to be beneficial for pediatric dystonia. The use of high-dose clonidine remains poorly documented. We aimed to describe our experience with high-dose clonidine.

Methods: Dystonia-Severity-Action- Plan (DSAP) is used to evaluate the severity of dystonia.

Results: The clinical information of five children, seen at KK Hospital between 2019 and 2023, on high-dose clonidine were reviewed and reported. High-dose clonidine was effective in the management of severe exacerbations of dystonia, with an improvement in DSAP scoring. Clonidine may be administered enterally, intravenously, and through the transdermal route. The median dose reported was 2 mcg/kg/h, with doses up to 6 mcg/ kg/h. Adverse effects reported were dose-dependent and include bradycardia, hypotension, sedation, and application site reaction.

Conclusion: High-dose clonidine is effective in improving severe dystonia in our multi-ethnic Asian population, and well tolerated. Our experience complements the existing data and suggest that high- dose clonidine can be considered in the management of pediatric dystonia and status dystonicus.

Evaluation of the retina and optic discs of patients with chronic and episodic migraine using optical coherence tomography and optical coherence tomography angiography

Buket Özkara Yılmaz — 2024-12-25

Objective: Migraine is a very common, recurring, usually unilateral, severe, pulsating, and transient headache disorder, which causes temporary disability. Abnormal retinal and optic disc pathologies in migraine patients were previously reported by using optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). In the present study, it was hypothesized that the changes found in the retina and optic disc might indicate a functional disorder in migraine. It is also emphasized that these changes might be useful for early diagnosis and follow-up of the disease, as well as for the development of new treatments.

Method: In total, 60 individuals were involved in the present study, including 28 chronic migraine patients (24 female, 4 male) and 32 episodic migraine patients (26 female, 6 male), whose migraine types were determined by using the criteria set by the International Headache Society (IHS) in 2013. The control group consisted of 48 healthy volunteers (34 female, 14 male) aged between 18 and 45 years, who applied to the ophthalmology clinic. The retinas and optic discs of the patients were examined by OCT and OCTA at our ophthalmology clinic. A double-blind randomized analysis was performed for the patient data and the data were compared to control group of similar gender and age.

Results: Examining the demographic data, no statistically significant difference was found between the migraine patients and the healthy controls in terms of age and gender However, using OCT, it was determined that the mean vertical and horizontal cup- to-disk (c/d) ratios at the optic disc were significantly impaired in patients compared to the control group. Moreover, using OCTA, significant reductions in vessel density were detected in the foveal, parafoveal, perifoveal areas and in the superficial and deep capillary plexuses of the patients.

Conclusion: Migraine patients have statistically significant differences in retinal thickness and vascularity, which is consistent with an increased risk.

Pattern of cognitive deficit in vascular dementia

Junita Maja Pertiwi — 2024-12-25

Background: Vascular dementia (VaD) is the second most common cause of dementia after Alzheimer’s disease. Vascular dementia has heteregeneous manifestation due to varying infarct location and subtypes. Despite quite frequent in Indonesia due to high incidence of stroke, the study about pattern of cognitive deficit in vascular dementia are still limited.

Methods: This study is an observational cross-sectional consecutive sampling study conducted at the Memory Clinic of Provincial General Hospital Prof. Dr. R.D.Kandou, Manado, North Sulawesi, Indonesia during the period 1 January 2023 to 31 March 2024. Vascular dementia was diagnosed based on NINDS-AIREN criteria, and further classified based on Vascular Impairment of Cognition Classification Consensus Study (VICCCS). Cognitive examinations were done by using the Indonesian version of the Montreal Cognitive Assessment instrument (MoCA- INA) and other cognitive examinations.

Results: There were 100 subjects who met the inclusion and exclusion criteria. The mean MoCA-INA in the study subjects was 12.2 (SD ± 6.0), with the lowest value found in mixed type dementia followed by multiple infarction/cortical and subcortical vascular dementia. Memory was the domain that most frequently impaired in vascular dementia. Impairments in the language domain were more common in the multiple infarct/cortical subtype, while executive function deficits were more frequently found in the subcortical subtype of vascular dementia (p<0.001). Attention, memory and visuospatial disorders did not show any significant differences in the three subtypes of vascular dementia.

Conclusion: Language disorders are more common in multiple infarction or cortical subtypes, while executive function is more dominantly impaired in the cortical subtype.

A study into the present situation and factors influencing post-traumatic stress disorder in patients affected by venomous snake bites in Guizhou, China

Xian-Juan Gou — 2024-12-25

Objective: To examine the occurrence of post-traumatic stress disorder among patients who have experienced venomous snakebites and investigate the factors contributing to it. The results provided insights for devising suitable nursing interventions.

Methods: Between June 2022 and October 2023, a total of 128 snakebite patients from the Advanced Snakebite Rescue Center at a tertiary hospital in Guizhou Province were chosen as participants using convenience sampling. General Information Questionnaire, the 10-item Connor-Davidson Resilience Scale (CD-RISC-10), the Social Support Rating Scale (SSRS), the Visual Analog Scale (VAS), the Simple Clinical Severity Assessment Scale, and the Swelling Severity Rating Scale (SSRS) were assessed at the time of admission, and Posttraumatic Stress Disorder Checklist-Civilian Version (PCL-C) at 1 month after.

Results: The prevalence of post-traumatic stress disorder (PTSD) among patients bitten by venomous snakes was found to be 67.97%, with an average PTSD score of 44.26±13.53. Various factors including cultural background, psychological resilience, social support, pain intensity, severity of snakebite, and degree of swelling were identified as influencing PTSD in these patients (all P < 0.05).

Conclusion: The incidence of PTSD was increased in individuals with venomous snakebites, particularly among those with lower literacy levels, reduced psychological resilience, limited access to social support, increased pain levels, severe snakebites, and significant swelling. Healthcare professionals should address PTSD in patients with snakebites and implement preventive interventions targeting these high-risk factors to mitigate the occurrence of PTSD in this patient population.

Etiology, clinical characteristics, and treatment outcome in patients with isolated sixth cranial nerve palsy

Surachet Rujirussawarawong — 2024-12-25

Background & Objective: Isolated sixth cranial nerve palsy was the most common isolated cranial nerve palsy causing extraocular muscle dysfunction. As magnetic resonance imaging (MRI) quality had improved and knowledge had grown in recent years, the etiology previously classified as idiopathic might be re-classified to be another in the current era, and some require specific treatments. We therefore studied the etiology, clinical characteristics, and treatment outcome in patients with isolated sixth cranial palsy in recent years.

Methods: The medical records of 88 patients with isolated sixth cranial nerve palsy visited at the Neurological Institute of Thailand from January 2013 to December 2020 were reviewed. Clinical and demographical data included age, gender, laterality, headache location, vascular risk factors, etiology, treatment, and prognosis were collected and analyzed.

Results: The most common etiology was microvascular ischemia (29.5%), followed by inflammation (25.0%), and vascular disorders (20.5%). Neoplasm, abducens palsy mimics and false localizing sign, and idiopathic were less common (13.6%, 6.8% and 4.5%, respectively). Compared to patient with sixth cranial nerve palsy from microvascular ischemia, those with inflammatory cause were younger (p<0.001), were more likely to have headache (p=0.004), and had better prognosis at 3 months (p=0.018).

Conclusion: Microvascular ischemia was the most common etiology of isolated sixth cranial nerve palsy. Age at onset and presence of headache were the important clues for distinguishing sixth cranial nerve palsy due to microvascular ischemia from inflammation. Prognosis was more favorable in inflammation than microvascular ischemia group. We suggest MRI scan to exclude other causes before making a diagnosis of microvascular ischemia or idiopathic.

A wrist-worn oximetry in the detection of obstructive sleep apnea in stroke patients

Xiaoyu Wang — 2024-12-25

Objective: To assess the accuracy of a Dehaier wrist pulse oximeter DHR998 Plus to detect obstructive sleep apnea (OSA) in stroke patients.

Methods: One hundred and fifty-one ischemic stroke patients simultaneously completed a standard polysomnogram (PSG) and wore the Dehaier wrist pulse oximeter DHR998 Plus and another finger-worn oximetry Pulsox-300i during a nocturnal recording. PSG sleep and apnea-hypopnea index (AHI) were scored according to AASM criteria. Dehaier wrist pulse oximeter DHR998 Plus and Pulsox-300i data were analyzed with an automated computerized algorithm which calculated the amount of oxygen desaturation events with a 4% decline from baseline lasting more than 3 seconds per hour. This yielded an oxygen desaturation index 4% (ODI4). Agreement analysis and receiver operator characteristic curve analysis were used to measure the diagnostic reliability of Dehaier wrist pulse oximeter DHR998 Plus compared with AHI and Plusox-300i.

Results: Among the 151 patients, 14 cases were without OSA (AHI<5), 25 cases were diagnosed with mild OSA (AHI:5-14.9), 29 cases were diagnosed with moderate OSA (AHI:15-29.9) and 83 cases were diagnosed with severe OSA (AHI≥30). There was a significant correlation between Dehaier wrist pulse oximeter DHR998 Plus derived ODI4 and AHI (r=0.74, P<0.01). The agreement between Dehaier wrist pulse oximeter DHR998 Plus derived ODI4 and Pulsox-300i derived ODI4 was moderately good, with interclass correlation coefficient (ICC) values of 0.83 (95% CI, 0.78-0.88, P<0.01). To assess sensitivity and specificity of Dehaier wrist pulse oximeter DHR998 Plus, we constructed receiver operator characteristic curve by various AHI threshold values (5, 15, 20 and 30). Optimal combinations of sensitivity and specificity for the various thresholds were 0.88/0.71, 0.88/0.69, 0.93/0.65, 0.74/0.9, respectively.

Conclusions: Wrist-worn Dehaier wrist pulse oximeter DHR998 Plus can detect OSA with reasonable reliability as Gravel V2, especially for severe OSA in stroke patients.

Distribution patterns of obstructive and central apnea in adults with obstructive sleep apnea-hypopnea syndrome

Jing Yang — 2024-12-25

Objective: This study aimed to investigate the distribution patterns of obstructive and central apnea events in adults with obstructive sleep apnea-hypopnea syndrome (OSAHS).

Methods: Utilizing polysomnography (PSG) data, we selected patients with a habitual snoring condition and categorized them into OSAHS and non-OSAHS groups. The OSAHS group was further stratified into mild, moderate, and severe subgroups based on disease severity. We compared the distribution of obstructive sleep apnea (OSA) and central sleep apnea (CSA) events between the groups, analyzing their correlation with the apnea-hypopnea index (AHI), age, gender, and other factors.

Results: A total of 460 patients were enrolled for the study, 374 patients were in the OSAHS group and 86 patients in the non-OSAHS group. (1) There were statistical differences in AHI and obstructive apnea index (OAI) in all groups (P < 0.05), with the OSAHS group having a higher AHI and OAI than the non-OSAHS group. (2) In the OSAHS group, OAI and AHI had the highest correlation (r = 0.884, P < 0.01), and central apnea index (CAI) and AHI had the lowest correlation (r = 0.237, P < 0.01); in the non-OSAHS group, OAI and AHI had the highest correlation (r = 0.520, P < 0.01), and CAI and AHI had the lowest correlation (r = 0.312, P < 0.01). (3) In the OSAHS group, OAI was significantly correlated with the severity of patient disease (r = 0.828, P < 0.01), whereas CAI was marginally correlated with the severity of patient disease (r = 0.235, P < 0.01), but it increased as the condition became more severe.

Conclusion: Patients with OSAHS exhibited both CSA and OSA, with OAI having a significantly greater impact. OAI can serve as a valuable index for evaluating OSAHS severity, while CSA appears to be primarily influenced by the overall disease severity. Notably, patients with OSAHS had a higher CAI compared to those without OSAHS.

Mutations in CSPP1, TMEM67, PLP1, and GAN associated with pediatric neurological disorders in Iran

pooyan alizadeh — 2024-12-25

Background & Objective: Neurological disorders significantly impact patients’ mental, personality, and movement functions, with a rising prevalence globally, especially in low-income and middle- income countries. This study aims to evaluate gene mutations in pediatric neurological disorders patients to contribute to our understanding of these disorders’ genetic basis.

Methods: In the current survey, all patients with maternal signs of neurological disorders who were referred to the neurology department during 2023 to 2024 were evaluated. DNA samples from patients were enriched using the Agilent SureSelect Human All Exon Kit V6, and subsequent sequencing took place on an Illumina HiSeq 4000 platform based on the manufacturer’s procedures.

Results: In the current cross-sectional study, 13 patients with maternal neurological disorders including 6 males (46%) and 7 females (54%) were evaluated. Our results identified inherited neurological disorders, including Joubert syndrome, Pelizaeus-Merzbacher disease, and giant axonal neuropathy-1. Our data identified a novel missense mutation in exon 8 of PLP1 gene (NM_001128834.3: c.772A>C; p.Met258Leu) with X-linked recessive inheritance in a patient with Pelizaeus-Merzbacher disease. Gene variants, including CSPP1 frameshift mutation in exon 20 (NM_001382391.1: c.2259_2260delAA; p.Glu755GlyfsTer30), and autosomal recessive homozygous TMEM67 mutation in exon 8 (NM_153704.6: c.725A>G; p.Asn242Ser) were detected in patients with Joubert syndrome. Finally, in a patient with giant axonal neuropathy-1, a homozygous GAN mutation (NM_022041.4: c.1177T>C; p.Cys393Arg) was detected.

Conclusion: Our findings can be useful in understanding the pathophysiology of neurological disorders. Also, this study indicated the importance of genetic analysis in utilizing the treatment strategy in patients with neurological disorders.

A novel application of neurite orientation dispersion and density imaging to differentiate cognitively recovered versus non-recovered following mild traumatic brain injury

Prasath Swaminathan — 2024-12-25

Objective: Cognitive deficits in mild traumatic brain injury (mTBI) can persist over three months, and symptomatic patients may not be readily diagnosed. Although diffusion tensor imaging (DTI) can detect microstructural white matter tract (WMT) changes in mTBI, the underlying recovery process is not fully understood. We aimed to investigate WMT changes at 3 months post-mTBI between cognitively recovered (REC) and non-recovered (NREC) mTBI subjects using diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI).

Methods: Fifty-seven mTBI subjects were divided into REC (n=16) and NREC (n=41) groups. Ten healthy controls (HC) were recruited. MRI and Neuropsychological Assessment Battery-Screening Module (S-NAB) performance were assessed at baseline and three months before subjects were classified as REC and NREC. DTI and NODDI parameters of 50 ROIs corresponding to WMTs were compared between REC, NREC and HC.

Results: NODDI detected more significant changes (p<0.05) in multiple ROIs than DTI. Lower Neurite Density Index (NDI) was demonstrated in REC versus NREC at multiple ROIs. Increased Orientation Dispersion Index (ODI) and decreased Isotropic Volume Fraction (ISOVF) were detected at several WMTs in both groups.

Conclusion: Reduced NDI in the overall mTBI cohort suggests axonal degeneration post-trauma. We postulate that at three months’ timeline, there is a combination of axonal degeneration and astrogliosis, which is more extensive in NREC than REC.

Perceived social support, and related factors in patients with spinal cord injury

Yücel Olgun — 2024-12-25

Background and Objectives: With developing technology and techniques, great progress has been made in the rehabilitation of patients with spinal cord injury. However, despite these advancements, insufficient attention is given to the social support perceived by patients and related factors in their rehabilitation. The aim of this study was to determine perceived social support and related factors in patients with spinal cord injury.

Method: An evaluation was conducted on patients admitted to the outpatient clinic in a university rehabilitation center in Konya , Turkey. A total of 150 subjects aged 18-65 years were included in this study, which had a prospective, controlled study design. Participants were assessed for depression, anxiety, perceived social support, quality of life, and pain. Additionally, the patient group was evaluated for disability status and activities of daily living.

Results: In the patient group, perceived social support (P=0.002) and quality of life (P<0.001) were found to be statistically significantly lower, while levels of depression (P<0.001), anxiety (P=0.006), and pain (P=0.001) were found to be high. An increase in perceived social support was associated with an improvement in quality of life, particularly in terms of social relations and environment (r=0.405, P<0.001, r=0.276, P=0.016). Furthermore, a significant negative correlation was observed between quality of life and depression (r=-0,478, P<000.1) and anxiety (r=-0.319, P=0.005).

Conclusion: These findings emphasize the importance of social support in patients with spinal cord injury. Healthcare professionals should recognize social support as an integral part of spinal cord injury rehabilitation.

Bilateral vertebral artery dissection aneurysm involving the anterior spinal artery: A challenge in management

Yuxi Wu — 2024-12-25

Bilateral vertebral artery dissection aneurysm (VADA) is a rare intracranial aneurysm with complex structures near the posterior cranial fossa, making surgical treatment difficult. The management strategy for ruptured interlayers is still controversial, and the protection of collateral circulation during surgery is an important consideration. We report here a case of bilateral VADA with subarachnoid hemorrhage involving the anterior spinal artery, which was successfully treated through a strategy of unilateral VADA stent assisted coil embolization and a second-phase contralateral surgery.

Cephalic tetanus presenting as facial palsy, ptosis, trismus, and orthopnea following a fall

Gareth Zigui Lim — 2024-12-25

Tetanus is a bacterial infection of the nervous system caused by neurotoxins produced by Clostridium tetani. Cephalic tetanus is a rare, localized form of the disease that is often under-recognized and misdiagnosed. Patients typically present with cranial neuropathies, trismus, and stiffness localized to the head and neck. Early recognition of the disease is crucial, as it is easily treatable and can prevent progression to the more severe generalized form. In this report, we describe a patient who developed progressive neurological symptoms after sustaining a forehead laceration from a fall. Over the course of three weeks, he developed facial (VII) nerve palsy, ptosis, followed by trismus, and later orthopnea, which are uncommon manifestations of the disease. This case underscores the importance of early recognition, treatment, and prevention of this neglected condition, which is not commonly observed in well-developed healthcare systems where immunization is universally available.

A case of rapidly progressive amyotrophic lateral sclerosis associated with SOD1 mutation (p.D126H variant) following COVID-19 vaccination

Chen-Fei Ng — 2024-12-25

Mutations in common amyotrophic lateral sclerosis (ALS) genes have been reported in sporadic ALS. In the current case, we describe a patient without known family history who was found to harbour a SOD1 mutation (p.D126H variant) and who developed ALS following COVID-19 vaccination. This mutation has only been previously reported once three decades ago in a British family. Although COVID-19 vaccination in itself is unlikely to contribute to the development of ALS, the possibility that vaccination could play a part in triggering the onset of disease in patients with risk variants merits further study.

Lumbar stenosis syndrome due to hypertrophy of nerve roots in chronic inflammatory demyelinating polyneuropathy: A case report and literature review

Nan Hu — 2024-12-25

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired, immune-mediated neuropathy, characterized by a relapsing-remitting or progressive course. CIDP patients may manifest lower back and leg pain or intermittent claudication mimicking a lumbar stenosis syndrome. We report here one case of CIDP patients with manifestations of the lumbar stenosis syndrome from our database and summarize similar cases previously preported. We found there may be obvious mismatches between clinical symptoms and electrophysiological studies/neuroimaging in CIDP patents. For refractory CIDP patients with a long course of disease, regular imaging may be necessary to monitor the dynamic changes of nerve roots. Decompressive operation may also be an option for CIDP patients with thickening of nerve roots that has caused lumbar stenosis syndrome.

Report of a progressive leukoencephalopathy with ovarian failure (LKENP) case with compound heterozygous genotype and a novel variant: AARS2:c.2358_2364+7dup

Neslihan Duzkale — 2024-12-25

Leukoencephalopathies are a heterogeneous group of diseases in which many acquired and hereditary factors play a role in its etiopathogenesis. In recent years, Alanyl-tRNA synthetase 2 (AARS2), encoded by the nuclear genome, has been identified as the causative gene in a small number of patients. The AARS2 gene is responsible for the “progressive leukoencephalopathy with ovarian failure (LKENP)” phenotype, an extremely rare syndrome characterized by progressive leukoencephalopathy and premature ovarian failure. In this case report; we describe the delayed diagnosis of LKENP by genetic analysis using a large gene panel, in a female who was followed up in different clinics for many years with clinical findings of early ovarian failure, amnesia, depression, young-onset dementia, early ovarian failure and leukoencephalopathy. As a result of genetic analysis of the patient using NGS-based targeted multigene panel testing, disease-related variants in the AARS2 gene were found to be compound heterozygous. These; reported in the literature as NM_020745.4(AARS2):c.1709delG (p.Gly570AlafsTer21) and novel NM_020745.4(AARS2):c.2358_2364+7dupCCAGCAGGTCAGCA variants. When the clinical and radiological findings observed in our case were evaluated together, LKENP was considered in the preliminary diagnosis among all adult-onset leukoencephalopathy types. In this rare hereditary type of leukoencephalopathy, molecular genetic tests was important in elucidating etiopathogenesis.