This article reports a rare case of pantothenate kinase-associated neurodegeneration: the patient′s initial symptoms were Parkinson-like symptoms such as tremor and bradykinesia, as well as dysarthria. Brain magnetic resonance imaging showed abnormal signals in the bilateral basal ganglia region similar to the tiger′s eye sign. Two heterozygous mutations including c.803A>G(p.Asp268Gly) and c.1021C>T(p.Arg341 *) were found in the pantothenate kinase 2 gene by whole exome sequencing, and the final diagnosis was neurodegeneration with brain iron accumulation type 1, also known as pantothenate kinase-associated neurodegeneration. By reviewing the clinical characteristics, diagnostic approaches and therapeutic strategies, this article aims to enhance the recognition of this disease, avoid misdiagnosis and missed diagnosis, and provide guidance for clinical diagnosis and treatment.

Objective:To summarize the clinical characteristics of focal cerebral arteriopathy (FCA) in children, and to analyze its influencing factor of prognosis.Methods:A retrospective cohort study was conducted. Clinical data from 40 children with FCA who were hospitalized at the Department of Neurology, Beijing Children′s Hospital, Capital Medical University, from September 2015 to August 2024 were collected. A centralized follow-up was conducted in October 2024 via outpatient clinics or the internet. The pediatric stroke outcome measure (PSOM) was used to evaluate their outcomes. Based on the PSOM, the children were further divided into a group with normal neurological function and another group with abnormal neurological function. Differences between groups were analyzed using the Mann-Whitney U test and Fisher exact test. Univariate Logistic regression analysis was performed to identify the influencing factors for neurological outcomes in children with FCA. Results:A total of 40 children were included, with 20 males and 20 females, and the onset age of 9.2 (6.8, 12.5) years. Among them, 12 cases (30%) had a history of varicella within 1 year before onset. There were 23 cases (58%) presenting with transient ischemic attack (TIA) or recurrent fluctuating symptoms of onset, while 3 cases (8%) developed progressive stroke within the first month of onset. The M1 segment of the middle cerebral artery was the most commonly affected vascular site, with a total of 16 cases (40%). Arterial occlusion occurred in 8 cases (20%). Lumbar puncture was completed in 36 children, and white blood cell counts in cerebrospinal fluid was increased in 6 cases. All 23 patients who completed magnetic resonance vessel wall imaging (VWI) showed circular enhancement of the arterial wall. A total of 28 patients (70%) received antiplatelet or anticoagulation therapy, and 16 patients (40%) received hormone therapy. At admission, the pediatric National Institute of Health Stroke Scale (PedNIHSS) score was 6.0 (2.0, 8.8) points, which decreased to 0.5 (0, 3.0) points at discharge. The follow-up duration was 1.6 (0.8, 4.9) years, with 1 case lost to follow-up. There was 1 case presenting with recurrence course manifesting as TIA. Among the 39 cases who completed the follow-up, 23 cases (59%) were assessed as neurologically normal by PSOM, while 16 cases (41%) were assessed as neurologically abnormal. Among the 29 cases who completed the imaging review, magnetic resonance angiography (MRA) review in 23 cases indicated stability or improvement in the original arterial stenosis, with 6 cases experiencing transient worsening of arterial stenosis early in the disease course (within 2 months), which later improved. Arterial stenosis progression occurred in 6 cases at the final review of 29 cases who completed the imaging review, with 1 case developing progressive cerebral arteriopathy. The proportion of patients with headache, altered consciousness, and aphasia in the abnormal neurological function group, as well as the PedNISS scores at admission and discharge, were all higher than those in the normal neurological function group (all P<0.05). Univariate Logistic regression analysis revealed that only a PedNISS score>6 points at onset was an influencing factor for abnormal neurological function ( OR=20.58, 95% CI 3.93-107.70, P<0.001). Conclusions:Childhood FCA often presents with fluctuating onset, and the proximal segment of the middle cerebral artery is frequently affected. Progression of arterial stenosis is common within 2 months of the disease course, but clinical progression and new ischemic lesions are uncommon. Most patients have a favorable long-term prognosis. PedNIHSS score>6 points at admission is related to abnormal neurological function outcomes.

Objective To develop and validate a deep learning-based segmentation model for low-dose cervical spine X-ray,aiming to address the insufficient segmentation accuracy in low-dose protocols while balancing radiation protection and diagnostic accuracy.Methods A total of 1 363 patients cervical spine X-ray images data were collected.A dose-attenuation mathematical simulation sys-tem was constructed to generate 14 122 dynamic low-dose cervical spine images incorporating quantum noise,contrast degradation,and blur artifacts.A neural network model was developed for automated segmentation of low-dose cervical spine X-ray using this dataset.Results Within the dose range of 50%to 7.5%,the average reults of automatic segmentation by the neural network model and manual segmentation for each group were as follows:50%dose group,intersection over union(IoU)=0.98 vs 0.93(P=0.707)and Dice coefficient(Dice)=0.99 vs 0.96(P=0.749);10%dose group,IoU=0.97 vs 0.87(P=0.201)and Dice=0.99 vs 0.93(P=0.219);7.5%dose group,IoU=0.97 vs 0.67(P<0.01)and Dice=0.98 vs 0.80(P<0.01).Conclusion The developed deep learning model achieved robust cervical spine segmentation(IoU>0.96,Dice>0.98)below diagnostic dose thresholds[peak signal-to-noise ratio(PSNR)<38 dB,structural similarity index(SSIM)<0.65].Under ultra-low-dose conditions(PSNR=27.710 dB,SSIM=0.274),it demonstrated a 44.78%IoU improvement and 22.5%Dice improvement over manual segmentation.This model enables minimal radia-tion exposure while preserving diagnostic performance,confirming its theoretical feasibility for low-dose X-ray image analysis and clinical research potential.

Objective To develop and validate a deep learning-based segmentation model for low-dose cervical spine X-ray,aiming to address the insufficient segmentation accuracy in low-dose protocols while balancing radiation protection and diagnostic accuracy.Methods A total of 1 363 patients cervical spine X-ray images data were collected.A dose-attenuation mathematical simulation sys-tem was constructed to generate 14 122 dynamic low-dose cervical spine images incorporating quantum noise,contrast degradation,and blur artifacts.A neural network model was developed for automated segmentation of low-dose cervical spine X-ray using this dataset.Results Within the dose range of 50%to 7.5%,the average reults of automatic segmentation by the neural network model and manual segmentation for each group were as follows:50%dose group,intersection over union(IoU)=0.98 vs 0.93(P=0.707)and Dice coefficient(Dice)=0.99 vs 0.96(P=0.749);10%dose group,IoU=0.97 vs 0.87(P=0.201)and Dice=0.99 vs 0.93(P=0.219);7.5%dose group,IoU=0.97 vs 0.67(P<0.01)and Dice=0.98 vs 0.80(P<0.01).Conclusion The developed deep learning model achieved robust cervical spine segmentation(IoU>0.96,Dice>0.98)below diagnostic dose thresholds[peak signal-to-noise ratio(PSNR)<38 dB,structural similarity index(SSIM)<0.65].Under ultra-low-dose conditions(PSNR=27.710 dB,SSIM=0.274),it demonstrated a 44.78%IoU improvement and 22.5%Dice improvement over manual segmentation.This model enables minimal radia-tion exposure while preserving diagnostic performance,confirming its theoretical feasibility for low-dose X-ray image analysis and clinical research potential.

Objective:To summarize the clinical characteristics of focal cerebral arteriopathy (FCA) in children, and to analyze its influencing factor of prognosis.Methods:A retrospective cohort study was conducted. Clinical data from 40 children with FCA who were hospitalized at the Department of Neurology, Beijing Children′s Hospital, Capital Medical University, from September 2015 to August 2024 were collected. A centralized follow-up was conducted in October 2024 via outpatient clinics or the internet. The pediatric stroke outcome measure (PSOM) was used to evaluate their outcomes. Based on the PSOM, the children were further divided into a group with normal neurological function and another group with abnormal neurological function. Differences between groups were analyzed using the Mann-Whitney U test and Fisher exact test. Univariate Logistic regression analysis was performed to identify the influencing factors for neurological outcomes in children with FCA. Results:A total of 40 children were included, with 20 males and 20 females, and the onset age of 9.2 (6.8, 12.5) years. Among them, 12 cases (30%) had a history of varicella within 1 year before onset. There were 23 cases (58%) presenting with transient ischemic attack (TIA) or recurrent fluctuating symptoms of onset, while 3 cases (8%) developed progressive stroke within the first month of onset. The M1 segment of the middle cerebral artery was the most commonly affected vascular site, with a total of 16 cases (40%). Arterial occlusion occurred in 8 cases (20%). Lumbar puncture was completed in 36 children, and white blood cell counts in cerebrospinal fluid was increased in 6 cases. All 23 patients who completed magnetic resonance vessel wall imaging (VWI) showed circular enhancement of the arterial wall. A total of 28 patients (70%) received antiplatelet or anticoagulation therapy, and 16 patients (40%) received hormone therapy. At admission, the pediatric National Institute of Health Stroke Scale (PedNIHSS) score was 6.0 (2.0, 8.8) points, which decreased to 0.5 (0, 3.0) points at discharge. The follow-up duration was 1.6 (0.8, 4.9) years, with 1 case lost to follow-up. There was 1 case presenting with recurrence course manifesting as TIA. Among the 39 cases who completed the follow-up, 23 cases (59%) were assessed as neurologically normal by PSOM, while 16 cases (41%) were assessed as neurologically abnormal. Among the 29 cases who completed the imaging review, magnetic resonance angiography (MRA) review in 23 cases indicated stability or improvement in the original arterial stenosis, with 6 cases experiencing transient worsening of arterial stenosis early in the disease course (within 2 months), which later improved. Arterial stenosis progression occurred in 6 cases at the final review of 29 cases who completed the imaging review, with 1 case developing progressive cerebral arteriopathy. The proportion of patients with headache, altered consciousness, and aphasia in the abnormal neurological function group, as well as the PedNISS scores at admission and discharge, were all higher than those in the normal neurological function group (all P<0.05). Univariate Logistic regression analysis revealed that only a PedNISS score>6 points at onset was an influencing factor for abnormal neurological function ( OR=20.58, 95% CI 3.93-107.70, P<0.001). Conclusions:Childhood FCA often presents with fluctuating onset, and the proximal segment of the middle cerebral artery is frequently affected. Progression of arterial stenosis is common within 2 months of the disease course, but clinical progression and new ischemic lesions are uncommon. Most patients have a favorable long-term prognosis. PedNIHSS score>6 points at admission is related to abnormal neurological function outcomes.

This article reports a rare case of pantothenate kinase-associated neurodegeneration: the patient′s initial symptoms were Parkinson-like symptoms such as tremor and bradykinesia, as well as dysarthria. Brain magnetic resonance imaging showed abnormal signals in the bilateral basal ganglia region similar to the tiger′s eye sign. Two heterozygous mutations including c.803A>G(p.Asp268Gly) and c.1021C>T(p.Arg341 *) were found in the pantothenate kinase 2 gene by whole exome sequencing, and the final diagnosis was neurodegeneration with brain iron accumulation type 1, also known as pantothenate kinase-associated neurodegeneration. By reviewing the clinical characteristics, diagnostic approaches and therapeutic strategies, this article aims to enhance the recognition of this disease, avoid misdiagnosis and missed diagnosis, and provide guidance for clinical diagnosis and treatment.

ObjectiveTo explore the application value of CT pulmonary angiography (CTPA) in assessing the severity of acute pulmonary embolism (APE) and right heart function in rehabilitation patients. MethodsFrom January, 2013 to January, 2020, 133 inpatients (94 positive and 39 negative) who underwent CTPA examination in Beijing Bo'ai Hospital were involved. Positive patients were further divided into mild, moderate and severe groups based on the pulmonary artery obstruction index (PAOI). The clinical parameters and right heart function indicators were compared. Spearman correlation analysis was used to analyze the correlation between PAOI, and clinical parameters and right heart function indicators, and Logistic regression analysis was used to predict the risk factors of APE. ResultsThere was significant difference in lower extremity venous thrombosis, D-dimer, oxygen partial pressure, PAOI and left process of interventricular septum among four groups (H ≥ 12.350, P < 0.01). PAOI was moderately positively correlated with D-dimer (r = 0.443, P < 0.001) and left process of interventricular septum (r = 0.520, P < 0.001), and was weakly positively correlated with lower extremity venous thrombosis (r = 0.399, P < 0.001), left pulmonary artery diameter (r = 0.213, P = 0.014) and inferior vena cava regurgitation (r = 0.229, P = 0.008). Lower extremity venous thrombosis (OR = 7.708, P < 0.001) and left process of interventricular septum (OR = 3.641, P = 0.008) were independent risk factors for the onset of APE. The combination of the two indicators was effective for diagnosis of APE, and AUC was 0.795 (95% CI 0.715 to 0.874). ConclusionCTPA may be applied to evaluate the severity of APE and right heart function in rehabilitation patients.

Objective:To determine the risk factors of extubation failure and its effect on the prognosis of patients who had successfully passed a spontaneous breathing trial (SBT).Methods:The clinical data of patients with mechanical ventilation more than 24 hours who passed SBT admitted to department of intensive care unit (ICU) of First Hospital of Qinhuangdao from November 2018 to November 2019 were retrospectively analyzed. According to the outcome of weaning within 48 hours after weaning, patients were divided into weaning success group and weaning failure group. The baseline data, the presence of basic cardiopulmonary diseases, B-type natriuretic peptide (BNP), fluid balance, albumin and hemoglobin within 24 hours before weaning, the time of mechanical ventilation before weaning, rapid shallow breathing index (RSBI) during SBT, oxygenation index, cough peak flow at the end of SBT, and prognostic indicators were collected. The outcome of weaning was taken as the dependent variable, and the observation factors were taken as the independent variable for univariate analysis. The factors with statistical significance in univariate analysis were analyzed by binary Logistic regression to determine the influencing factors of weaning failure.Results:Of the 204 patients, 167 (81.9%) were successfully weaned, and 37 (18.1%) failed. Compared with the weaning success group, the total duration of mechanical ventilation and the length of ICU stay in the weaning failure group were significantly longer [days: 13.0 (7.5, 23.5) vs. 5.0 (3.0, 8.0), 17.0 (12.5, 31.0) vs. 10.0 (6.0, 15.0), both P < 0.01], and the tracheotomy rate and mortality were significantly higher (32.4% vs. 0%, 51.4% vs. 0%, both P < 0.01). Univariate analysis showed that there were significant differences in age, proportion of patients with cardiopulmonary diseases, BNP and cough peak flow between weaning failure group and weaning success group [age (years old): 70.65±15.78 vs. 62.69±15.82, cardiopulmonary diseases: 62.2% vs. 24.6%, BNP (ng/L): 416.87 (32.70, 1 225.80) vs. 45.36 (10.00, 273.60), cough peak flow (L/min): 59.89±9.06 vs. 83.84±16.52, all P < 0.01]. However, there were no significant differences in gender, acute physiology and chronic health evaluationⅡ (APACHEⅡ) at admission, mechanical ventilation time before weaning, albumin, hemoglobin, oxygenation index, RSBI and fluid balance 24 hours before weaning between weaning failure group and weaning success group [male: 51.4% vs. 68.3%, APACHEⅡ: 16.70±6.65 vs. 15.67±6.28, mechanical ventilation time before weaning (days): 6.0 (2.5, 11.0) vs. 5.0 (3.0, 8.0), albumin (g/L): 27.78±4.15 vs. 27.76±4.46, hemoglobin (g/L): 102.43±15.80 vs. 100.61±17.19, oxygenation index (mmHg, 1 mmHg = 0.133 kPa): 359.33±79.83 vs. 365.75±78.23, RSBI (times·L -1·min -1): 50.73±24.97 vs. 46.76±15.53, positive fluid balance: 70.3% vs. 69.5%, all P > 0.05]. The results of binary Logistic regression analysis showed that age ≥ 75 years old [odds ratio ( OR) = 3.099, 95% confidence interval (95% CI) was 1.003-9.574, P = 0.049], presence of cardiopulmonary diseases ( OR = 3.599, 95% CI was 1.126-11.498, P = 0.031), BNP within 24 hours before weaning ( OR = 1.002, 95% CI was 1.000-1.003, P = 0.005) were the risk factors of extubation failure, while cough peak flow at the end of SBT was the protective factor ( OR = 0.869, 95% CI was 0.823-0.917, P = 0.000). Conclusions:For patients who had successfully passed SBT, age ≥ 75 years old, the presence of cardiopulmonary diseases and an increased level of BNP within 24 hours were the risk factors of extubation failure. In addition, the higher the cough peak flow at the end of SBT, the lower the risk of weaning failure will be.

Objective: To summarize the clinical features of Bickerstaff brainstem encephalitis (BBE) in children. Methods: In this retrospective study, data of 19 patients with BBE (11 males and 8 females) were collected from Department of Neurology, Beijing Children′s Hospital from October 2015 to January 2018. The clinical features, treatment and prognosis were analyzed. Results: The onset age of BBE ranged from 1 year and 8 months to 12 years and 11 months. There were 18 cases with preceding infection. The most common infection was upper respiratory tract infection (9 cases), followed by simple fever (5 cases). The most common initial neurological symptoms were lethargy or disturbance of consciousness (8 cases), followed by limb weakness (5 cases). There were 6 cases of simple BBE and 13 cases of BBE overlapping Guillain-Barré syndrome (GBS). Besides the characteristic triad of altered mental status, ataxia, and ophthalmoplegia, there were other symptoms including convulsion (5 cases), diplopia (3 cases), nystagmus (7 cases), facial muscular weakness (7 cases),bulbar palsy (13 cases) and autonomic nerve symptoms (9 cases). Hypo or areflexia was seen in 16 cases. Positive Babinski′s signs were seen in 8 cases. Hyponatremia was present in 10 cases in whom 4 showed severe hyponatremia. Albumin-cytological dissociation of cerebrospinal fluid was seen in 10 cases. The autoimmune antibodies were examined in all 19 patients. Anti-ganglioside antibodies including anti-GM1 IgG antibody was positive in 2 patients and one of whom was also found with positive anti-GD1b IgG antibody. Anti-GQ1b IgG antibody was present in 2 patients. Electromyography was performed in 14 cases and 8 cases, who were all BBE overlapping GBS, showed neurological damage. A total of 16 cases were monitored by video electroencephalography and 8 cases showed slow waves of background. In addition to, interictal focal discharge was detected in 2 cases. T2 fluid-attenuated inversion recovery (FLAIR) sequence abnormal signals were detected in 3 of 18 cases performed brain magnetic resonance imaging (MRI), and lesions involved with brainstem, basal ganglia, thalamus, cerebellum, corpus callosum and cerebral cortex. Lesions involved cervical and thoracic spinal cord were found in 1 out of 11 cases for whom spinal cord MRI was performed. All of the 4 cases who underwent enhanced MRI of spinal had partial nerve roots enhancement. All of the 19 patients received 1 to 2 courses of intravenous immunoglobulin therapy, and 2 cases also received plasma exchange. Fifteen cases received steroid therapy. The following-up period ranged from 3 months to 2.5 years. Two cases were lost to follow-up. Twelve cases achieved a full recovery within 3 months. Three cases recovered within 6 months. One case still had slight limb weakness and ataxia after 1 year and 8 months of follow-up, and another case had left autonomic nerve symptoms in the follow-up of 2 years and 3 months. Both of them were BBE overlapping GBS. Conclusions Children′s BBE is similar to that in adults, and is frequently found overlapped with GBS. Furthermore, it is sometimes accompanied by central nervous system demyelination disease. The antiganglioside antibodies are not often detectable. Immunoglobulin therapy could usually achieve good response. The prognosis of simple BBE is good in most situations. For BBE overlapping GBS, the more severe the limb weakness during the peak of disease is, the slower the recovery would be.

Objective To explore the clinical value of real‐time elastography in evaluating rabbit carotid vulnerable plaque . Methods Thirty male New Zealand rabbits ( weighted from 2 .0 to 3 .0 kg) were all fed with high cholesterol diet for one week before balloon injury of their right common carotid arteries . Then they were categorized randomly into two groups which were continued fed by high cholesterol diet for 6 and 12 weeks ,respectively . Ultrasound and real‐time elastography of their right common carotid arteries were applied after their anesthesia by ear marginal vein . Strains of the carotid plaques were measured and analyzed statistically by two independent experienced sonographers . All the rabbits were sacrificed by air embolism method after all the examinations . The atherosclerotic rabbit common carotid lesions were dissected ,fixed for pathologic examination , and graded according to the standard of American Heart Association ( AHA) ,which were compared with the real‐time elastography findings . Results Real‐time elastography had well repeatability between different operators . Consistency between elastography and the AHA pathology was quite good ,with the Cohen′s kappa= 0 .803 (95% CI 0 .669 to 0 .938) . Strains of different regions in a plaque had statistically significant difference ( P <0 .000 1) . By using strain higher than 0 .37% ,the sensitivity and specificity of detecting a lipid core were 88 .0% and 81 .6% ,and area under ROC curve was 0 .902 (95% CI 0 .810 -0 .959 , P < 0 .0001) . Conclusions Real‐time elastography can display the inner elastic characteristics of the rabbit carotid plaques ,and may help evaluate the grading of a plaque . The strain value may help detect a necrotic core ,thereby help evaluate the stability of a plaque .