Cranial Magnetic Resonance Imaging Research Articles

Deep medullary veins as an important imaging indicator of poor prognosis in acute ischemic stroke: a retrospective cohort survey.

The deep medullary veins (DMVs), which constitute a component of the intracerebral venous circulation system and are part of intracerebral reperfusion mechanisms, have been suggested as a novel imaging marker for cerebral white matter hypersignal and cerebral small vessel disease based on their discontinuous and reduced visual representation. However, the correlation between the number and continuity of visible DMVs and the poor prognosis of acute ischemic stroke (AIS) remains undefined. Magnetic susceptibility-weighted imaging was applied in this study to assess the distribution and structural characteristics of DMVs in patients with AIS and to investigate its relationship with the poor prognosis of those with AIS. This retrospective study included 90 patients diagnosed with AIS in the middle cerebral artery region by the Neurology Department of Liaoning Provincial People's Hospital. Clinical, laboratory, and cranial magnetic resonance imaging data were collected. After the 3-month follow-up visit, patients were dichotomized into good (0-2 points) and poor (≥3 points) prognosis groups based on the modified Rankin Scale score, and the DMV imaging characteristics were evaluated using a 3-level visual rating scale. The association between DMV and AIS prognosis was determined through Mann-Whitney test and multivariate logistic regression analysis. In univariate analysis, factors that were statistically significant between the different prognostic groups were DMV score (P=0.007), DMV symmetry (P=0.016), infarct size (P=0.029), and admission National Institutes of Health Stroke Scale (NIHSS) score (P<0.001). DMV score had a positive correlation with NIHSS score, (rs=0.209; P=0.048). Logistic regression analysis showed that the DMV score [odds ratio (OR), 1.356; 95% confidence interval (CI): 1.114-1.650; P=0.002], NIHSS score (OR, 1.280; 95% CI: 1.117-1.466; P<0.001), and fasting glucose (OR, 1.220; 95% CI: 1.023-1.456; P=0.027) were risk factors for poor prognosis in those with AIS. Discontinuity in DMV visualization was found to be associated with an unfavorable prognosis for patients AIS. The visual assessment of DMV through susceptibility-weighted imaging has the potential to predict AIS prognosis and furnish valuable insights for clinical treatment.

Impact of rater experience and referral question on detecting magnetic resonance imaging features of idiopathic intracranial hypertension.

In idiopathic intracranial hypertension (IIH), magnetic resonance imaging (MRI) features are promising diagnostic markers, but the impact of rater experience and the specific referral question is unknown. From the Vienna Idiopathic Intracranial Hypertension database, patients were included with definitive IIH and routine cranial MRI performed during diagnostic work-up. Frequencies of partial empty sella (ES), optic nerve sheath distension (ONSD), optic nerve tortuosity (ONT), posterior globe flattening (PGF) and transverse sinus stenosis (TSS) were compared in three settings: (i) real-world rating, (ii) junior neuroradiologist without special IIH training and (iii) senior neuroradiologist with experience in IIH imaging (gold standard). Magnetic resonance imaging scans of 84 IIH patients (88% female, mean age 33.5 years) were evaluated. By gold standard, ONSD was the most frequent (64.3%) followed by TSS (60.0%), ONT (46.4%), ES (44.4%) and PGF (23.8%). Compared to the gold standard, IIH features were described significantly less frequently in routine MRI reports (ONSD 28.6%, ONT 13.1%, PGF 4.8%, TSS 42.9%, p < 0.01 respectively) except for ES (42.9%, p = 0.9). A specific referral question regarding IIH increased detection rates in routine reports, but rates remained significantly lower than by gold standard. In contrast, a rating by a neuroradiologist without special training produced significantly higher frequencies of ONSD (81.0%, p < 0.01) and ONT (60.7%, p < 0.01) but not of ES (47.6%), PGF (29.8%) and TSS (68.1%). Idiopathic intracranial hypertension MRI features are underestimated in routine MRI reports and partly overcalled by less experienced neuroradiologists, driven by features less well known or methodologically difficult. Reevaluation of MRI scans by an experienced rater (and to a lesser degree a specific referral question) improves diagnostic accuracy.

Clinical study of autonomic dysfunction in patients with autoimmune encephalitis

BackgroundAutoimmune encephalitis (AE) is a collective name, covering an emerging spectrum of autoimmune-mediated neurological diseases related to antibodies and synaptic or intracellular proteins. Anti-NMDAR, anti-LGI1, and anti-GABABR are three types of neuronal cell surface antibodies. Autonomic dysfunction represents a frequently occurring clinical manifestation. This observational study purposes to investigate comparisons between two groups with or without autonomic dysfunction and detect the autonomic dysfunction and other indexes in anti-NMDAR, anti-LGI1, and anti-GABABR cohorts. MethodsPatients with anti-NMDAR, anti-LGI1 and anti-GABABR encephalitis were recruited from the May 2017 to the April 2022. The following information was recorded: age, age at onset, tumor presence, gender, prodromal symptoms, clinical manifestations, cranial magnetic resonance imaging, cerebrospinal fluid and blood examinations, and immunotherapy. ResultsThere were totally 161 patients enrolled in this study. Among these participants, 104 individuals (64.6%) presented autonomic dysfunction and the remaining 57 (35.4%) were free of autonomic dysfunction. Sinus tachycardia was the most common autonomic dysfunction, followed by pollakiuria/uroclepsia, feverscence, central hypoventilation, sinus bradycardia, constipation, uroschesis, hyperhidrosis, hypersalivation, hypotension, and early satiety/emesis. Compared to patients without autonomic dysfunction, those with autonomic dysfunction had a higher incidence of central hypoventilation and ICU admissions. Meanwhile, in both groups with or without autonomic dysfunction, meatal behavior disorder, cognitive impairment, and epileptic seizure were three most common clinical manifestations. There were no significant differences in cranial magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) examination, antibody titers and number of immunotherapy types. Further analysis of AE mediated by distinct neuronal surface antibodies demonstrated that there were 85 anti-NMDAR, 56 anti-LGI1, and 20 anti-GABABR encephalitis patients. The significant differences between these three cohorts appeared in age, tumor presence, fervescence presence and antibody titers. ConclusionThis study demonstrated the comparisons between autonomic dysfunction group and autonomic dysfunction-free group and provided insights into better diagnosis and treatment.

Correlation between enlarged perivascular space and brain white matter hyperintensities in patients with recent small subcortical infarct.

This study aimed to investigate the correlation between enlarged perivascular space (EPVS) and white matter hyperintensities (WMH) at different locations in patients with recent small subcortical infarct (RSSI). Data were collected from patients with RSSI who were hospitalized at Changzhou Second People's Hospital between October 2020 and December 2021. All patients underwent cranial magnetic resonance imaging, and the grades of EPVS and WMH were assessed, including basal ganglia EPVS (BG-EPVS), centrum semiovale EPVS (CSO-EPVS), deep WMH (DWMH), and periventricular WMH (PWMH). The volumes of EPVS and WMH at different locations were quantified using 3D Slicer software. Patients were grouped according to the severity of BG-EPVS and CSO-EPVS. Univariate and multivariate analyses were used to analyze the relationship between EPVS and WMH. A total of 215 patients with RSSI were included in the analysis. Patients with moderate-to-severe BG-EPVS had higher DWMH and PWMH severity than those with mild BG-EPVS, both in terms of volume and grade. There was no significant difference in WMH severity between patients with mild CSO-EPVS and those with moderate-to-severe CSO-EPVS. Multivariate analysis indicated that after adjustments were made for confounding factors, DWMH volume (β=0.311; 95% CI, 0.089-0.400; p=.002) and PWMH volume (β=0.296; 95% CI, 0.083-0.424; p=.004) were independently associated with BG-EPVS. Pearson correlation showed that PWMH volume (r=.589; p<.001) and DWMH volume (r=.596; p<.001) were positively related to BG-EPVS volume. DWMH and PWMH are closely related to BG-EPVS in patients with RSSI.

Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.

Brain iron accumulation disorders (BIADs) are a group of diseases characterized by iron overload in deep gray matter nuclei, which is a common feature of neurodegenerative diseases. Although genetic factors have been reported to be one of the etiologies, much more details about the genetic background and molecular mechanism of BIADs remain unclear. This study aimed to illustrate the genetic characteristics of BIADs and clarify their molecular mechanisms. A total of 84 patients with BIADs were recruited from April 2018 to October 2022 at Xuanwu Hospital. Clinical characteristics including family history, consanguineous marriage history, and age at onset (AAO) were collected and assessed by two senior neurologists. Neuroimaging data were conducted for all the patients, including cranial magnetic resonance imaging (MRI) and susceptibility-weighted imaging (SWI). Whole-exome sequencing (WES) and capillary electrophoresis for detecting sequence mutation and trinucleotide repeat expansion, respectively, were conducted on all patients and part of their parents (whose samples were available). Variant pathogenicity was assessed according to the American College of Medical Genetics and Association for Molecular Pathology (ACMG/AMP). The NBIA and NBIA-like genes with mutations were included for bioinformatic analysis, using Gene Ontology (GO) annotation and Kyoto Encyclopedia of Genes and Genome (KEGG). GO annotation and KEGG pathway analysis were performed on Metascape platform. In the 84 patients, 30 (35.7%) were found to carry mutations, among which 20 carried non-dynamic mutations (missense, stop-gained, frameshift, inframe, and exonic deletion) and 10 carried repeat expansion mutations. Compared with sporadic cases, familial cases had more genetic variants (non-dynamic mutation: P=0.025, dynamic mutation: P=0.003). AAO was 27.85±10.42 years in cases with non-dynamic mutations, which was significantly younger than those without mutations (43.13±17.17, t=3.724, P<0.001) and those with repeated expansions (45.40±8.90, t=4.550, P<0.001). Bioinformatic analysis suggested that genes in lipid metabolism, autophagy, mitochondria regulation, and ferroptosis pathways are more likely to be involved in the pathogenesis of BIADs. This study broadens the genetic spectrum of BIADs and has important implications in genetic counselling and clinical diagnosis. Patients diagnosed as BIADs with early AAO and family history are more likely to carry mutations. Bioinformatic analysis provides new insights into the molecular pathogenesis of BIADs, which may shed lights on the therapeutic strategy for neurodegenerative diseases.

High frequency of cerebrospinal fluid autoantibodies in patients with seizures or epilepsies of unknown etiology.

The increasing identification of specific autoantibodies against brain structures allows further refinement of the group of autoimmune-associated epilepsies and affects diagnostic and therapeutic algorithms. The early etiological allocation of a first seizure is particularly challenging, and the contribution of cerebrospinal fluid (CSF) analysis is not fully understood. In this retrospective study with a mean of 7.8 years follow-up involving 39 well-characterized patients with the initial diagnosis of new-onset seizure or epilepsy of unknown etiology and 24 controls, we determined the frequency of autoantibodies to brain proteins in CSF/serum pairs using cell-based assays and unbiased immunofluorescence staining of unfixed murine brain sections. Autoantibodies were detected in the CSF of 30.8% of patients. Underlying antigens involved glial fibrillary acidic protein (GFAP) and N-methyl-D-aspartate (NMDA) receptors, but also a range of yet undetermined epitopes on neurons, glial and vascular cells. While antibody-positive patients had higher frequencies of cancer, they did not differ from antibody-negative patients with respect to seizure type, electroencephalography (EEG) and cranial magnetic resonance imaging (cMRI) findings, neuropsychiatric comorbidities or pre-existing autoimmune diseases. In 5.1% of patients with seizures or epilepsy of initially presumed unknown etiology, mostly CSF findings resulted in etiological reallocation as autoimmune-associated epilepy. These findings strengthen the potential role for routine CSF analysis. Further studies are needed to understand the autoantibody contribution to etiologically unclear epilepsies, including determining the antigenic targets of underlying autoantibodies.

Analysis of the clinical characteristics of 25 cases with parenchymal neuro-Behcet's disease

Objective: To retrospectively investigate the clinical data, radiological characteristics, treatment, and outcome of patients with parenchymal neuro-Behcet's disease (P-NBD) with particular emphasis on dizziness. Methods: This was a cross-sectional study of clinical data from 25 patients with a confirmed diagnosis of P-NBD who were admitted to the Department of Neurology of the First Medical Center of Chinese People's Liberation Army General Hospital between 2010 and 2022. The median age of the population was 37 years (range: 17-85 years). Clinical data were retrospectively analyzed, including gender, age of onset, disease duration, clinical manifestations, serum immune indicators, cerebrospinal fluid (CSF) routine biochemical and cytokine levels, cranial and spinal magnetic resonance imaging (MRI) findings, treatment, and outcome. Results: The majority of patients were male (16 cases; 64.0%), the mean age of onset was (28±14) (range: 4-58 years), and the disease course was acute or subacute. Fever was the most common clinical presentation, and the complaint of dizziness was not uncommon (8/25 patients). Analysis of serum immune indices, including complement (C3 and C4), erythrocyte sedimentation rate, interleukin-1 (IL-1), IL-6, IL-8 and tumor necrotic factor-alpha were abnormal in 80.0% of patients (20/25). Most of the 16/25 patients who underwent lumbar puncture tests had normal intracranial pressure and increased CSF white cell count and protein [median values were 44 (15-380) ×106/L and 0.73 (0.49-2.81) g/L, respectively]. Of the five patients who underwent CSF cytokine tests, four patients had abnormal results; of these, an elevated level of IL-6 was most common, followed by IL-1 and IL-8. The most common site of involvement in cranial MRI was the brainstem and basal ganglia (60.0% respectively), followed by white matter (48.0%) and the cortex (44.0%). Nine cases (36.0%) showed lesions with enhancement and six cases (24.0%) showed mass-like lesions. Three patients (12.0%) patients had lesions in the spinal cord, most frequently in the thoracic cord. All patients received immunological intervention therapy; during follow up, the majority had a favorable outcome. Conclusions: P-NBD is an autoimmune disease with multiple system involvement and diverse clinical manifestations. The symptom of dizziness is not uncommon and can be easily ignored. Early treatment with immunotherapy is important and can improve the outcome of these patients.

Factors predict the adequacy of cervical mediastinoscopy in nonsmall cell lung carcinoma lymph node staging and comparison computed tomography and integrated positron emission tomography

Background Standard cervical mediastinoscopy (SCM) has traditionally been considered the reference standard for grading mediastinal involvement in lung cancer. The objective of this research is to evaluate the impact of surgeon experience and patient-related restrictions on the adequacy of mediastinal lymph node (LN) sampling. Additionally, we aim to assess the effectiveness of PET/computed tomography (CT) in comparison to ECM (extended cervical mediastinoscopy), particularly in identifying metastases in the aortopulmonary window (APW) LN. Methods This prospective cohort study involved sixty individuals diagnosed with nonsmall cell lung cancer (NSCLC). The participants underwent fine needle transthoracic aspiration biopsy or bronchoscopy and subsequently had ECM performed. All participants underwent various diagnostic procedures, including thoracic CT, posteroanterior chest radiograph, pulmonary function tests, PET/CT, electrocardiography, cranial magnetic resonance imaging, and laboratory investigations. Results In terms of our outcomes, we evaluated the specificity, positive predictive value (PPV), sensitivity, negative predictive value (NPV), and accuracy of ECM. The results for ECM were as follows specificity of 100.0%, PPV of 100.0%, sensitivity of 78.3%, NPV of 88.1%, and accuracy of 91.7%. For PET/CT, the results were: a specificity of 90.5%, PPV of 75.0%, sensitivity of 57.1%, NPV of 80.9%, and accuracy of 78.3%. Conclusion The ECM procedure is highly beneficial in identifying APW LN metastasis in individuals diagnosed with nonsmall cell lung cancer. It exhibits a favorable NPV and efficiency. Moreover, it can be easily performed by a team with the necessary experience.

Clinical impact of serum hemoglobin A1c and insulin levels in terms of postoperative complications in the nondiabetic patients with non-small cell lung cancer

Background: Hemoglobin A1c and insulin levels are important parameters to indicate glucometabolic status of the patients. It is important to understand major changes in glycometabolic status so as to predict postoperative complications. In this study, we aim to assess the impact of serum hemoglobin A1c and insulin levels on postoperative morbidity in lung cancer patients. Materials and Methods: Between 2018 and 2019, 100 consecutive nondiabetic patients who underwent lung resection via thoracotomy with the indication of NSCLC were included in the study. Preoperatively all patients routinely underwent computed tomography and positron emission tomography (PET/CT), cranial magnetic resonance imaging (MRI) and pulmonary function and DLCO (Diffusing Capacity for Carbon Monoxide) tests. Preoperatively blood HbA1c, and fasting insulin levels of all patients were measured. Age, gender, BMI, insulin, HbA1c levels and postoperative complications were evaluated. Results: The higher incidence of postoperative complications was found to be related to patients with higher insulin (46.8 mIU/L vs 16.9 mIU/L, p=0.001) and HbA1c (6.22% vs 5.46%; p=0.001) levels compared with those with normal levels In patients who underwent redo surgery to treat hemorrhagic complications, higher insulin and HbA1c levels were observed (61 mIU/L, and 6.54 %, respectively , p=0.001). HbA1c and insulin levels were also higher in cases with prolonged air leak (44.7 mIU/L, and 6.25%, respectively; p=0.001). Bronchopleural fistula was observed in three patients with high insulin and HbA1c levels (60.3 mIU/L, and 6.23%, respectively; p=0.001). Conclusion: Preoperative HbA1c and fasting insulin levels are important parameters to predict postoperative morbidity in lung cancer patients.

Evaluation of Arachnoid Granulations in Cranial Dural Sinuses with Contrast-Enhanced 3-Dimensional T1-Weighted Magnetic Resonance Imaging.

Several studies in the literature have used contrast-enhanced magnetic resonance imaging to investigate arachnoid granulations protruding into the cranial dural sinuses. The current study aimed to investigate the protrusion of arachnoid granulations into the superior sagittal sinus, transverse sinus, straight sinus, and confluence of sinuses and determine the frequency of brain herniation into giant arachnoid granulations using contrast-enhanced 3-dimensional T1-weighted magnetic resonance imaging. Images of 550 patients with intra-sinus arachnoid granulations who underwent contrast-enhanced 3-dimensional T1-weighted thin-slice magnetic resonance imaging were retrospectively re-evaluated. Only 300 patients with at least 1 intra-sinus arachnoid granulation were included in the study. The protrusion of arachnoid granulations into superior sagittal sinus, transverse sinus, straight sinus, and confluence of sinuses was investigated. In addition, large arachnoid granulations and brain herniations into arachnoid granulations were also noted. A total of 889 focal filling defects of arachnoid granulations, at least 1 in the dural sinus, were detected. Of the filling defects of arachnoid granulations, 183 were in the right transverse sinus, 222 in the left transverse sinus, 265 in superior sagittal sinus, 185 in straight sinus, and 34 in confluence of sinuses. Brain herniation into arachnoid granulations was detected in 8 (2.7%) of the patients included in the study. All the filling defects detected in the dural sinuses on post-contrast 3-dimensional T1-weighted images were isointense with cerebrospinal fluid and had round, oval, or lobulated contours. A positive weak correla- tion was found between patient age and the size and number of arachnoid granulations (r = 0.181, P < .01 and r=0.207, P < .001, respectively). It was observed that the size and number of arachnoid granulations increased as the age of the patients increased. The distribution, shape, number, and size of intra-sinus arachnoid granulations can vary considerably. Brain herniation into arachnoid granulation can also be seen. Three-dimensional cranial magnetic resonance imaging sequences can be safely used in the evaluation of arachnoid granulations.

Microscopic and endoscopic "chopstick" technique removal of choroid plexus papilloma in the third ventricle of an infant: a case report with systematic review of literature.

Choroid plexus papilloma (CPP) is rare and even rarer in infants and young children, and it usually occurs in the ventricles. Due to the physical peculiarities of infants, tumor removal by microscopic or endoscopic surgery alone is difficult. A 3-month-old patient was found to have an abnormally enlarged head circumference for 7 days. Cranial magnetic resonance imaging (MRI) examination revealed a lesion in the third ventricle. The patient underwent combined microscopic and endoscopic "chopstick" technique to remove the tumor. He recovered well after the surgery. Postoperative pathological examination revealed CPP. Postoperative MRI suggested total resection of the tumor. Follow-up for 1 month showed no recurrence or distant metastasis. Combined microscopic and endoscopic "chopstick" technique may be a suitable approach to remove tumors in infant ventricles.

Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene

BackgroundThe spinocerebellar ataxias (SCAs) refer to a diverse group of neurodegenerative illnesses that vary clinically and genetically. One of the rare subtypes within this group is SCA13, caused by mutations in the KCNC3 gene. Currently, the prevalence of SCA13 remains uncertain, with only a couple of cases being documented in the Chinese population. This study presented a case study of SCA13, where the patient exhibited clinical symptoms of epilepsy and ataxia. The confirmation of the diagnosis was done through Whole Exome Sequncing.Case presentationSince childhood, the seventeen-year-old patient has not been capable of participating in numerous sporting activities and has experienced multiple episodes of unconsciousness within the last two years. The neurological evaluation showed a lack of coordination in the lower limbs. Cerebellar atrophy was detected through brain magnetic resonance imaging (MRI). The patient’s gene detection results showed that they exhibit a heterozygous c.1268G > A mutation in the KCNC3 gene located at chr19:50826942. Antiepileptic treatment was promptly administered to the patient, and as a result, her epileptic seizures were resolved quickly. She has since remained free of seizures. After a one-year follow-up, there was no apparent improvement in the patient’s health status except seizure free, which may have worsened.ConclusionThe case study highlights the importance of actively combining cranial MRI with genetic detection in patients with ataxia of no known cause, particularly in children and young patients, to establish an possibly obvious detection. Patients who are young and have ataxia that is first accompanied by extrapyramidal and epilepsy syndromes should be aware of the potential of having SCA13.

Peripheric and central olfactory measurements in patients with bipolar disorder.

Bipolar disorder (BD) is a mental health disorder. To investigate the peripheric and central olfactory measurements in patients with BD using magnetic resonance imaging (MRI). This study was conducted retrospectively. Group 1 consisted of 27 euthymic patients with BD (14 men, 13 women) and Group 2 consisted of 27 healthy controls (14 men, 13 women). Olfactory bulb (OB) volume and olfactory sulcus (OS) depth (peripheric), and corpus amygdala and insular gyrus area (central) measurements were performed using cranial MRI. OB volume and OS depth value of the bipolar group were lower than the control group, but there were no significant differences between the groups (P > 0.05). The corpus amygdala and left insular gyrus area of the bipolar group were significantly lower than those in the control group (P < 0.05). There were positive correlations between OB volumes and OS depths, the insular gyrus areas, and the corpus amygdala areas (P < 0.05). As the number of depressive episodes and duration of illness increased in bipolar patients, the depth of the sulcus decreased (P < 0.05). In the present study a correlation was detected between OB volumes and the structures, known as emotional processing (e.g. insular gyrus area, corpus amygdala), and clinical features. Accordingly, new treatment techniques, such as olfactory training, may be considered an option in the treatment of such patients with BD.

Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene

The objective of this study is to analyze the role of dehydrodolichyl diphosphate synthase (DHDDS), a crucial enzyme in the mevalonate pathway, and its encoded mutations in the onset of developmental delay and seizures, with or without movement abnormalities. Its genotype-phenotype characteristics are still inconclusive. We analyzed the clinical characteristics of epilepsy, and neurodevelopmental and motor disorders related to DHDDS gene mutations and report the genotype-phenotype characteristics of a child with epilepsy caused by DHDDS gene mutation, providing a summary and a statistical analysis of epilepsy cases associated with DHDDS gene mutation up until February 2022.Methods: Using "DHDDS; epilepsy; neurodevelopmental disorder" as the keywords, the literature relevant to DHDDS gene mutations up until February 2022 was reviewed. A total of 25 cases were retrieved, among which 21 cases with complete data were included in the chi-squared test. The clinical characteristics of DHDDS gene-related cases were summarized and analyzed.Results: The onset of epilepsy caused by mutations of the DHDDS gene typically occurs during infancy. Predominantly, the mutation occurs in the locus of c.632G>A p.R211Q. Myoclonus is frequently the initial manifestation of epilepsy; it frequently coexists with neurodevelopmental disorder and intellectual disability, and patients have no specific type of motor disorder. Cranial magnetic resonance imaging (MRI) reveals no abnormalities, whereas electroencephalogram (EEG) frequently exhibits abnormalities. Valproic acid (VPA) yields good curative effects.Conclusion: Mutations in the DHDDS gene are associated with congenital glycosylation disorder, autosomal recessive retinitis pigmentosa, and epilepsy. According to statistical analysis using the chi-squared test, for pediatric patients with mutations in this gene locus, most of the epilepsy types are myoclonic epilepsies with intellectual disability and neurodevelopmental disorders. They have normal brain MRIs and abnormal EEGs. VPA produces beneficial therapeutic results and the differences are all statistically significant. The current diagnosis still relies on next-generation sequencing or whole-exome sequencing.

Clinical Analysis of Intranasal Dexmedetomidine Combined With Midazolam in Pediatric Cranial Magnetic Resonance Examinations

PurposeTo observe the efficacy and safety of intranasal dexmedetomidine combined with midazolam in cranial magnetic resonance imaging of children. DesignA prospective, observational, single-arm, one-center study. MethodsA total of 474 children were scheduled for cranial 3.0 T MRI at the first time. All patients were initially given 3 mcg/kg dexmedetomidine combined with 0.15 mg/kg midazolam. The one-time success rate, vital signs before and after treatment, onset time, recovery time, and incidence of adverse reactions were recorded. FindingsThe one-time success rate was 78.1%. There were significant differences in respiration, heart rate, and blood oxygen saturation before and after treatment (P < .001). The onset time was 10 (8-15) minutes. The average recovery time was 2.58 ± 1.10 hours. Only 1.27% (6 cases) of adverse reactions were observed, including bradycardia (3 cases, 0.6%), tachycardia (1 case, 0.2%), and startle (2 cases, 0.4%). No special treatment was needed. The success of the examination was significantly correlated with age (OR 1.320, 95% CI 1.019-1.710, P = .035) and onset time (OR 0.959, 95% CI 0.921-0.998, P = .038). ConclusionDexmedetomidine 3 mcg/kg combined with midazolam 0.15 mg/kg intranasally has a good sedative effect in pediatric cranial magnetic resonance examinations, little impact on breathing and circulation, and few adverse reactions. Age and onset time are related factors affecting the one-time success rate.

Prenatal diagnosis of tuberous sclerosis complex: Echocardiography, cranial magnetic resonance, and genetic testing of 40 cases with fetal cardiac tumors

ObjectiveTo explore the relationship between Tuberous sclerosis complex (TSC) and cardiac tumors at our institution over the past five years and to evaluate the value of imaging technologies and genetic testing in the prenatal diagnosis of TSC. MethodsFetal echocardiography (FE) was performed in the whole population between 2016 and 2020. Fetuses detected with cardiac tumor(s) were included. Fetal cranial magnetic resonance imaging (MRI) and gene mutation tests were further examined. Those who declined genetic testing were excluded in the final analysis. ResultsA total of 40 fetuses were included in our study. There were 27 cases performed cranial magnetic resonance imaging (MRI) and the rest of 13 cases refused. Among 10 fetuses with cranial lesions detected by MRI, all of them were eventually diagnosed with TSC. And for 17 fetuses without cranial lesions, none of them were identified with a pathogenic variation in gene TSC1/2. The prevalence of TSC was significantly higher in the multiple tumors group than in the solitary group (9/20 vs. 2/20, P = 0.034). 11 fetuses had TSC1 (n = 3) or TSC2 (n = 8) causative or suspected causative mutations, of which 9 were sporadic mutations and 2 were familial mutations. ConclusionFetal cranial MRI should be recommended to evaluate brain lesions, and genetic mutation should be examined, if possible, especially for those with multiple heart tumors. When typical cardiac tumors and cranial lesions are detected, the diagnosis of TSC can almost be made even without genetic mutation results.

MRI manifestations of central nervous system leukaemia and cytological analysis of the cerebrospinal fluid

To investigate the magnetic resonance imaging (MRI) features and explore the value of MRI in the diagnosis of central nervous system leukaemia (CNSL). A retrospective study was performed in 68 patients with leukaemia who underwent cranial MRI between January 2020 and June 2022 at Institute of Hematology and Blood Diseases Hospital. A total of 33 patients fulfilled the requirements for inclusion. The findings showed that 87.9% patients exhibited neurological symptoms, and 23 patients showed abnormal MRI findings. No differences were observed between the MRI+ and MRI- groups in terms of age, sex, neurological symptoms, glucose in the cerebrospinal fluid (CSF), chloride in the CSF, abnormal cells detected using conventional cytology (CC), bone marrow status at the diagnosis of CNSL, signal intensity ratio, and mortality, except for protein concentration and the number of leukaemic cells detected using flow cytometry (FCM) in the CSF. Kaplan-Meier survival analysis in patients with leukaemia revealed no statistical differences in the median survival times between the MRI+ group and MRI- group. Cox regression analysis and multivariate analysis showed no significant difference in survival rate between the MRI+ and MRI- groups. Kappa consistency test shows weak diagnostic consistency between MRI and CC, and weak diagnostic inconsistency between MRI and FCM. MRI could serve as an important complementary tool to CC and FCM in the diagnosis of CNSL, especially in patients without leptomeningeal involvement.

Association between age and inflammatory disease activity on magnetic resonance imaging in relapse onset multiple sclerosis during long-term follow-up.

Inflammatory disease activity in multiple sclerosis (MS) decreases with advancing age. Previous work found a decrease in contrast-enhancing lesions (CELs) with age. Here, we describe the relation of age and magnetic resonance imaging (MRI) measures of inflammatory disease activity during long-term follow-up in a large real-world cohort of people with relapse onset MS. We investigated MRI data from the long-term observational Amsterdam MS cohort. We used logistic regression models and negative binomial generalized estimating equations to investigate the associations between age and radiological disease activity after a first clinical event. We included 1063 participants and 10,651 cranial MRIs. Median follow-up time was 6.1 years (interquartile range = 2.4-10.9 years). Older participants had a significantly lower risk of CELs on baseline MRI (40-50 years vs. <40 years: odds ratio [OR] = 0.640, 95% confidence interval [CI] = 0.45-0.90; >50 years vs. <40 years: OR = 0.601, 95% CI = 0.33-1.08) and a lower risk of new T2 lesions or CELs during follow-up (40-50 years vs. <40 years: OR = 0.563, 95% CI = 0.47-0.67; >50 years vs. <40 years: OR = 0.486, 95% CI = 0.35-0.68). Greater age is associated with a lower risk of inflammatory MRI activity at baseline and during long-term follow-up. In patients aged >50 years, a less aggressive treatment strategy might be appropriate compared to younger patients.

Effect of Body Mass Index on Chiari Malformation 1 Tonsil Ectopia Length in Adults

Diagnosis of Chiari I malformation (CM-1) is based on measurements of the inferior extension of the cerebellar tonsils into the foramen magnum on cranial or cervical spine magnetic resonance imaging. Imaging may be obtained before the patient is referred to the neurosurgical specialist. The length of time raises questions about the possibility that body mass index (BMI) fluctuations could affect the measurement of ectopia length. However, previous literature on BMI and CM-1 has reported conflicting findings on BMI. We conducted a retrospective chart review of 161 patients who were referred to a single neurosurgeon for CM-1 consultation. Patients with multiple recorded BMI values (n= 71) were compared to see if BMI changes correlated with changes in ectopia length. In addition, we compared and tested 154 recorded ectopia lengths from the patients (1 per patient) and patient BMI values with Pearson correlation and Welch t tests to determine if BMI changes either influenced or were associated with ectopia changes. For the 71 patients with multiple BMI values, change in ectopia length ranged from-4.6-9.8mm but was not statistically significant (r=0.019; P=0.88). For the 154 measured ectopia lengths, changes in BMI did not correlate with ectopia length (P>0.05). Likewise, differences in ectopia length between patients in normal, overweight, and obese categories were not statistically significant (|tstat|<|tcrit|, P>0.05). In individual patients, we found that BMI and changes in BMI were not accompanied by changes in tonsil ectopia length.

Construction and validation of a nomogram model to predict symptomatic intracranial hemorrhage after intravenous thrombolysis in severe white matter lesions.

Cerebral white matter lesions (WMLs) increase the risk of bleeding after intravenous thrombolysis (IVT) but are also considered to require IVT. Its risk factors and predictive models are still poorly studied. The aim of this study is to develop a clinically applicable model for post-IVT haemorrhage. It offers the possibility to prevent symptomatic intracranial hemorrhage (sICH) in patients with IVT in severe WMLs. A large single-center observational study conducted a retrospective analysis of IVT in patients with severe WMLs from January 2018 to December 2022. Univariate and multi-factor logistic regression results were used to construct nomogram model, and a series of validations were performed on the model. More than 2,000 patients with IVT were screened for inclusion in this study after cranial magnetic resonance imaging evaluation of 180 patients with severe WMLs, 28 of whom developed sICH. In univariate analysis, history of hypertension (OR 3.505 CI 2.257-4.752, p = 0.049), hyperlipidemia (OR 4.622 CI 3.761- 5.483, p < 0.001), the NIHSS score before IVT (OR 41.250 CI 39.212-43.288, p < 0.001), low-density lipoprotein levels (OR 1.995 CI 1.448-2.543, p = 0.013), cholesterol levels (OR 1.668 CI 1.246-2.090, p = 0.017), platelet count (OR 0.992 CI 0.985-0.999, p = 0.028), systolic blood pressure (OR 1.044 CI 1.022-1.066, p < 0.001), diastolic blood pressure (OR 1.047 CI 1.024-1.070, p < 0.001) were significantly associated with sICH. In a multifactorial analysis, the NIHSS score before IVT (OR 94.743 CI 92.311-97.175, p < 0.001), and diastolic blood pressure (OR 1.051 CI 1.005-1.097, p = 0.033) were considered to be significantly associated with sICH after IVT as risk factors for the occurrence of sICH. The four most significant factors from logistic regression are subsequently fitted to create a predictive model. The accuracy was verified using ROC curves, calibration curves, decision curves, and clinical impact curves, and the model was considered to have high accuracy (AUC 0.932, 95% 0.888-0.976). The NHISS score before IVT and diastolic blood pressure are independent risk factors for sICH after IVT in patients with severe WMLs. The models based on hyperlipidemia, the NIHSS score before IVT, low-density lipoprotein and diastolic blood pressure are highly accurate and can be applied clinically to provide a reliable predictive basis for IVT in patients with severe WMLs.