Cranial Magnetic Resonance Imaging Research Articles

Fast BET Based on Pre-Processing Evolution Using Global Mean Inter-Vertex Distance of Deformable Surface for MRI Brain Extraction

As a method based on the deformable surface evolution, brain extraction tools (BET) is widely used for brain extraction on cranial 3D magnetic resonance (MR) images. BET iteratively applies an evolution model depending on local parameters to the deformable surface until it reaches the brain border. In this paper, we propose a modified BET based on the fast model introducing a global parameter, the global mean inter-vertex distance of deformable surface. The surface evolution consists of two steps driven by two models: pre-processing step by the fast model and major step by the original model. We demonstrated our method in the experiments with T1-weighted and diffusion weighted MR images of 19 normal subjects. The modified BET converged within 300 iterations less than half of about 1000 iterations in the original BET, while reducing substantially the false negative regions and self-intersections. The proposed method may be efficient for high resolution images and large-scale studies.

Contribution of automated hippocampal volume measurements to radiological diagnosis in cases of mesial temporal sclerosis

Aims: Epilepsy, particularly drug-resistant epilepsy in adults, is often caused by Mesial Temporal Sclerosis (MTS), which can develop after brain injury from febrile illnesses or trauma. Magnetic Resonance Imaging (MRI) is crucial for diagnosing MTS, although challenges such as patient movement and mild or bilateral hippocampal atrophy can complicate the diagnosis. T1-weighted hippocampal volume measurements are effective in detecting MTS, with recent software advancements enabling automatic hippocampal segmentation. This study compared the hippocampal volumes and indices between adults with MTS and a control group of similar age and sex in the Turkish population. This study aimed to highlight structural differences in the hippocampus associated with MTS. Methods: This study involved a retrospective review of cranial MRIs scans from patients with MTS, confirmed through histopathological examination after epilepsy surgery. To ensure unbiased comparisons, a control group was selected using propensity score matching by age and gender. Two experienced neuroradiologists independently assessed the MRIs findings for MTS without knowledge of hippocampal volumetric data. Hippocampal volumes were measured using FreeSurfer software and standardized using the hippocampal volume index (HVI) and hippocampal asymmetry index (HAI). Results: In our study of 38 patients, MTS was found in 55.2% of patients on the right side and in 44.8% of patients on the left side, with no bilateral cases. Visual MRI analysis identified MTS in 84.2% of patients, with an area under of curve (AUC) of 0.921. Automatic volumetry detected MTS in 23 patients with an AUC of 0.791. Combining both methods, MTS was diagnosed in 33 patients, with an AUC of 0.922. Conclusion: Automated volumetric analyses have been shown to enhance the detection of hippocampal volume loss in patients with MTS.

Clinical characteristics of children with MT-TK gene m.8344A>G variation

Objective: To summarize the clinical characteristics of children carrying the m.8344A>G variant of MT-TK gene. Methods: A case series study was conducted to retrospectively collect data of 22 children with mitochondrial disease caused by MT-TK gene m.8344A>G variation who were treated at the Department of Neurology of Beijing Children's Hospital of Capital Medical University from January 2012 to January 2024. Their clinical data, laboratory tests, muscle pathology, genetic testing, and the follow-up results were analyzed. Pearson correlation analysis was used for correlation analysis. Results: Among the 22 children, there were 13 boys and 9 girls. The age of onset was 5.00 (2.75, 9.00) years. Fifteen children had myoclonic epilepsy with ragged-red fibers (MERRF), 3 had Leigh syndrome (LS), and 4 had LS-MERRF overlap syndrome (LS-MERRF). Myoclonus presented and worsened progressively in all 15 MERRF children, with 10 as the initial symptom and 5 developing progressively during the disease course. Myoclonus was predominantly focal, worsening with fine motor tasks or stress. Electroencephalogram monitoring in the 15 MERRF children revealed myoclonic seizures in 10 children, with 6 classified as myoclonic epilepsy, and 4 as subcortical myoclonus. Two children had generalized myoclonic seizures, and 1 each had absence seizures and generalized seizures. Twelve children had cerebellar ataxia, 10 children exhibited exercise intolerance, and 8 children had muscle weakness. Magnetic resonance imaging (MRI) revealed periventricular white matter involvement in 1 child and bilateral hippocampal involvement in 1 child, likely due to frequent seizures. All 3 children with LS exhibited developmental regressions, accompanied with 2 symptoms include cerebellar ataxia, muscle weakness, and dysphagia. The clinical manifestations of 4 LS-MERRF overlap children presented with combined features of MERRF and LS. Cranial MRI in the 7 LS and LS-MERRF children showed brainstem involvement (all affecting the midbrain) in 6 children and basal ganglia involvement in 4 children. Among the 22 children, 12 had m.8344A>G variant levels >90%, 3 had >80%-90%, 4 had >70%-80%, and 3 had >60%-70%. Higher variant level correlated with the LS phenotype and earlier onset age (r=0.47, -0.50; P=0.018 and 0.029, respectively). Sanger sequencing in 19 mothers revealed m.8344A>G variations in 18, with 4 showing exercise intolerance. Follow-up of 13 children on antimyoclonic treatment showed>75% reduction in seizures with levetiracetam monotherapy in 2 children, with combination therapy required in others. Most achieved >50% seizures reduction within 2 years, but the effectiveness declined with disease progression. Conclusions: The m.8344A>G variant is rare, with MERRF being the most common phenotype, while LS and LS-MERRF are less common. Children with higher ratio of the m.8344A>G variant are more likely to present LS phenotype. Myoclonus, primarily focal, is a key feature, with levetiracetam as the first-line treatment and benzodiazepines recommended for refractory cases.

The Level of Circulating M-MDSCs as an Indicator for the Therapeutic Outcome of BNCT in End-Stage Malignant Brain Tumor Patients

PurposeBoron neutron capture therapy (BNCT) is a promising treatment modality for patients diagnosed with malignant brain tumors. It is currently used for emergency and compassionate purposes to treat end-stage malignant glioma or recurrent head and neck cancer patients in Taiwan. Understanding the factors influencing treatment response is crucial for optimizing patient care. This study aimed to investigate the association between tumor response and various parameters in end-stage malignant glioma patients following BNCT. Patients and MethodsFifteen patients with end-stage malignant brain tumors underwent a single fraction of BNCT. The treatment response was evaluated using cranial magnetic resonance imaging, and the association between treatment response and BNCT parameters was analyzed. Additionally, circulating myeloid-derived suppressor cell (MDSC) levels were measured by flow cytometry and correlated with patients’ survival. ResultsBNCT exhibited significant therapeutic efficacy in reducing tumor volume of these end-stage glioma patients, with 3 patients achieving complete response and 10 patients achieving partial response within 1 month, resulting in an impressive objective response rate of 80%. The median overall survival is 9 (1.77, 12.47) months, and the progression-free survival is 1.34 (0.53, 9.53) months. Kaplan-Meier analysis showed that the patients with complete response and partial response displayed better survival than those with stable disease. Treatment response was not significantly associated with initial tumor size, blood boron concentration, tumor-to-normal tissue ratio, or tumor-to-blood ratio. The ROC curve revealed a cut-off value of 5% of circulating M-MDSCs with a sensitivity of 66.67% and specificity of 73.33%, respectively, for predicting the glioma patient’s response to BNCT. ConclusionThis clinical study demonstrates that BNCT can reduce tumor burden, improve disease control, and prolong survival in end-stage glioma patients. Circulating M-MDSCs may serve as a predictive indicator for the treatment response of these patients following BNCT.

Clinical data and MRI features-based nomogram for differentiation of central nervous system infection and central nervous system involvement in hematological malignancy.

Central nervous system leukemia (CNSL) and central nervous system infection (CNSI) are the most important complications in patients with acute leukemia (AL). However, the differential diagnosis could represent a major challenge since the two disorders are all heterogeneous entities with overlapping clinical characteristics and radiological appearances. In this paper, we conduct a retrospective study to develop a model based on clinical data and magnetic resonance imaging (MRI) to distinguish CNSL from CNSI. A total of 108 patients with AL who underwent cranial MRI between January 2020 and December 2023 in our hospital were included. Univariate and multivariate logistic regression analyses were used to determine the independent predictors. A nomogram was developed based on the predictors, and the performance of the nomogram was evaluated by the area under the receiver operating characteristic (ROC) curve. The validation cohort was used to test the predictive model. Hyperleukocytosis at initial diagnosis, marrow state, fever, conscious disturbance, coinfection in other sites and MRI (parenchyma type) were identified as independent factors. A nomogram was constructed and the discrimination was presented as AUC = 0.947 (95% CI 0.9105-0.984). Calibration of the nomogram showed that the predicted probability matched the actual probability well.

Early Period Survival and Neurologic Prognosis in Newborns with Perinatal Asphyxia: A Tertiary Center Experience and a Mortality Chart

Background: Clinicians require more data regarding mortality and brain damage risk factors in perinatal asphyxia. Objectives: To assess early term outcomes and identify mortality risk factors in perinatal asphyxia. Methods: This study was conducted in a referral-center tertiary intensive care unit in Istanbul, Turkey, between 2016 and 2023. We included all patients who underwent therapeutic hypothermia treatment due to perinatal asphyxia. We recorded laboratory follow-up data, magnetic resonance imaging (MRI) findings, amplitude-integrated electroencephalograms (aEEG) results, mortality, and clinical outcomes. Both conventional frequentist statistical methods and Bayesian methods were used for analysis. Results: A total of 164 patients were included in the study, with an overall mortality rate of 9.8%. Risk factors for mortality included LDH, troponin I, INR, lactate, 2nd day creatinine, voltage anomalies, seizures, and male gender, as well as APGAR scores. A basic chart for mortality prediction was developed. The Sarnat score showed strong evidence, and APGAR 1 showed anecdotal evidence for association with brain damage, although brain damage was independent of laboratory results and other clinical findings, based on moderate and anecdotal evidence from Bayesian calculations. Cranial MRI findings revealed profound damage in 14.8% of Sarnat 1, 21.8% of Sarnat 2, and 50% of Sarnat 3 patients. Conclusions: This study presents prognostic factors for survival and brain damage in perinatal asphyxia. We recommend obtaining cranial MRI for all patients diagnosed with asphyxia, as most laboratory tests were independent of brain damage. Given that profound brain damage can occur even in Sarnat stage I patients, we emphasize the importance of therapeutic hypothermia for these patients.

Antiviral Treatment and Risk of Hearing Loss in Asymptomatic and Mild Symptomatic Infants With Congenital Cytomegalovirus.

To assess hearing outcomes at 24 months of age in infants with mild congenital cytomegalovirus (cCMV) infection, depending on whether they have received antiviral treatment or not. A retrospective study within the European Registry of Children with cCMV was performed. Included children had cCMV diagnosed in utero/in the first 21 days of life, with normal physical examination, alanine aminotransferase <80 U/L and platelets >100,000 cs/mm3 and absence of hearing loss (HL) at birth. Cranial ultrasound (cUS) and/or cranial magnetic resonance imaging was normal or with minor findings (isolated lenticulostriate vasculopathy and/or germinolysis/caudothalamic or subependymal cysts, and/or focal/multifocal white matter involvement). The main outcome was the presence of HL at 24 months of age. One hundred ninety-six patients met inclusion criteria. A total of 34.7% received antiviral treatment with valganciclovir/ganciclovir. Children treated had lower gestational age, birth weight and head circumference, and maternal primary infection was less frequent. Among treated children, 21.3% presented minor findings in cUS versus 6.3% in nontreatment group (P = 0.003). Nine patients (4.6%) developed HL at 24 months. Among children with HL, 20% presented minor findings in cUS versus 11.3% in non-HL group (P = NS). HL rate was similar in treated and nontreated groups (4.6% vs. 6.3%; P = 0.6). One-third of the children were treated with antivirals and infants with minor neuroimaging findings at birth were more likely to receive antiviral. There were no differences in the prevalence of HL at 2 years of age between treated and not-treated children. Minor neuroimaging findings were not clearly associated with an increased risk of delayed onset HL.

The clinical and neuropsychological profiles of Alzheimer's disease with white matter hyperintensity in North China.

Patients with Alzheimer's disease (AD) often exhibit characteristic clinical manifestations, particularly neuropsychiatric symptoms. Previous studies have shown that white matter hyperintensity (WMH) is strongly associated with AD progression, as well as neuropsychiatric symptoms. The purpose of this study was to investigate the clinical and neuropsychological characteristics of AD patients with WMH. This retrospective study involved 104 18-fluorodeoxyglucose-positron emission computed tomography (18FDG-PET-CT)-defined AD patients treated at Tianjin Huanhu Hospital from January 2010 to December 2022. Cranial magnetic resonance imaging (MRI) provided semi-quantitative data on brain structure and WMH. Collect and analyze patient clinical data. Neuropsychological assessments were used to evaluate cognitive function and psychobehavioral traits. Among the 104 patients, 66 were in the WMH group (63.5%) and 38 in the non-white matter hyperintensity (non-WMH) group (36.5%). There were no significant differences in gender, age, age of onset, education, BMI, smoking, drinking, diabetes, coronary heart disease, dementia family history, fasting blood glucose, total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) between the two groups. The WMH group showed higher rates of hypertension, homocysteine (Hcy) levels, NPI, and CDR scores as compared to the non-WMH group (p < 0.05). MMSE and MoCA scores were significantly lower in the WMH group (p < 0.05). In the MMSE subitem analysis, patients in the WMH group showed a decrease in attention, recall, and language scores. In the MOCA subitem analysis, WMH patients had lower scores in executive function, naming, attention, language, abstraction, and orientation (p < 0.05). Furthermore, subgroup analysis of NPI showed a higher incidence of delusions, depression, and apathy in the WMH group (p < 0.05). According to the hierarchical analysis of mild, moderate and severe dementia groups, the hypertension, leukoencephalopathy, Hcy level, Fazekas total score, PWMH and DWMH scores in the severe dementia group were significantly higher than those in the mild and moderate dementia groups (p < 0.05). As the disease progresses, more and more patients show increased white matter hyperintensity. White matter lesions are closely correlated with cognitive decline and psychobehavioral symptoms in AD patients, and may be used as an indicator of disease progression. Priority should be given to early screening and prevention of WMH-related risk factors.

Cerebral small vessel injury in mice with damage to ACE2-expressing cerebral vascular endothelial cells and post COVID-19 patients.

The angiotensin-converting enzyme 2 (ACE2), which is expressed in cerebral vascular endothelial cells (CVECs), has been currently identified as a functional receptor for SARS-CoV-2. We specifically induced injury to ACE2-expressing CVECs in mice and evaluated the effects of such targeted damage through magnetic resonance imaging (MRI) and cognitive behavioral tests. In parallel, we recruited a single-center cohort of COVID-19 survivors and further assessed their brain microvascular injury based on cognition and emotional scales, cranial MRI scans, and blood proteomic measurements. Here, we show an array of pathological and behavioral alterations characteristic of cerebral small vessel disease (CSVD) in mice that targeted damage to ACE2-expressing CVECs, and COVID-19 survivors. These CSVD-like manifestations persist for at least 7 months post-recovery from COVID-19. Our findings suggest that SARS-CoV-2 may induce cerebral small vessel damage with persistent sequelae, underscoring the imperative for heightened clinical vigilance in mitigating or treating SARS-CoV-2-mediated cerebral endothelial injury throughout infection and convalescence. Cerebral small vessel disease-associated changes were observed after targeted damage to angiotensin-converting enzyme 2-expressing cerebral vascular endothelial cells. SARS-CoV-2 may induce cerebral small vessel damage with persistent sequelae. Clinical vigilance is needed in preventing SARS-CoV-2-induced cerebral endothelial damage during infection and recovery.

Children presenting with toe walking: when should concern arise?

Purpose: This study aimed to evaluate children who present with tiptoe walking (TW) and to identify potential indicators of underlying medical conditions. Materials and Methods: Out of the 248 patients who visited the Pediatric Neurology Outpatient Clinic for gait disturbances, 90 individuals aged 1-17 years were identified as exhibiting TW. After excluding those with systemic neurological diseases and pervasive developmental disorders (PDD), the study ultimately included 47 patients. Results: Among the participants, 19 were female (40.5%) and 28 were male (59.5%). The mean age of the patients was 4.9 years (SD ± 3.53). When evaluating the etiology of TW, 30 patients (63.8%) were found to have idiopathic tiptoe walking (ITW), 8 (17%) had cerebral palsy (CP), 6 (12.7%) had Achilles tendon shortness (ATS), 2 (4.2%) had hereditary spastic paraplegia (HSP), and 1 (2.1%) had syringomyelia. Imaging was not performed for 17 patients (36.1%), while cranial magnetic resonance imaging (MRI) was conducted for 13 (27.6%), spinal MRI for 2 (4.2%), and both cranial and spinal MRI for 15 (31.9%). Pathology was detected in 5 of the patients who underwent imaging (10.6%): 4 (8.5%) showed hypoxic-ischemic processes, and 1 (2.1%) showed syringomyelia. Conclusion: In cases where patients exhibit normal neurological examinations and neuromotor development, TW is often identified as idiopathic. However, for patients presenting with risk factors in their personal or family history, delays in neuromotor milestones, or abnormal neurological findings, a diagnosis should be pursued at an earlier stage.

Myelin oligodendrocyte glycoprotein (MOG) antibody-associated encephalitis induced by Mycoplasma pneumoniae infections

BackgroundThis study aims to report the phenomenon of Myelin oligodendrocyte glycoprotein antibody-associated encephalitis induced by Mycoplasma pneumoniae infections and promote the potential benefits of combining early immunotherapy and anti-M—pneumoniae therapy for these patients.MethodsThree children with MOG-IgG-associated encephalitis due to M. pneumoniae infections who were treated at our hospital from September to November 2023 were included in the study. We investigated and analyzed the background and clinical features of these patients.ResultsThree patients developed headaches, seizures, and/or other neurological manifestations, elevated mononuclear cells in cerebrospinal fluid, intracranial lesions on cranial magnetic resonance imaging (MRI), and positive MOG-IgG in serum, within 10–14 days. They were diagnosed with MOG-IgG-associated encephalitis due to M. pneumoniae infections, the treatment consisted of intravenous immunoglobulin, glucocorticoid, and erythromycin, then they were completely recovered.ConclusionMycoplasma pneumoniae (M. pneumoniae) infections can cause oligodendrocyte glycoprotein (MOG) antibody-associated encephalitis. The recognition of this condition will promote the potential benefits of combining early immunotherapy and anti-M. pneumoniae therapy for patients with MOG-IgG-associated encephalitis.

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy

Introduction: Metachromatic leukodystrophy (MLD) is a rare, demyelinating, autosomal recessive lysosomal storage disease caused by a deficiency in the arylsulfatase A enzyme (ASA), which is encoded by ARSA gene. A lack of ASA activity results in an accumulation of sulfatides in the myelin sheaths of both the central and peripheral nervous systems, leading to developmental and neurocognitive progressive deterioration that can be observed in all age groups. Methods: We present a total of 9 patients with MLD with an average age of 61 months, whose clinical, laboratory and cranial magnetic resonance imaging findings were evaluated, and who underwent an ARSA gene molecular analysis. Results: Of the 9 patients, 7 had the late infantile form of the condition, 2 had the juvenile form, and 3 were identified through family screening. The median age at diagnosis was 30 months (min 3–max 73 months), the mean ASA activity value was 2 nmol/h/mgprt and the median cranial MR imaging severity score was 10 (min 5–max 18). The grey and white matter volumes of all patients, evaluated using volBrain software, were within the normal range. At an average age of 48 months, the late-infantile MLD patients were unable to control any body part. Conclusions: Hematopoietic stem cell transplantation (HSCT), a treatment option for both the juvenile and adult forms of MLD in asymptomatic or early symptomatic patients, was performed on two of the asymptomatic and early symptomatic patients, and post-HSCT ASA activity settled within the normal range and their developmental milestones stabilized. It is important to diagnose MLD in the asymptomatic period and newborn screening can support early diagnosis.

Cognitive function in Parkinson's disease: associations with perivascular space in basal ganglia.

Cognitive impairment is one of the most common symptoms of Parkinson's disease (PD), and may be detectable through changes in neural features visualized by magnetic resonance imaging (MRI). Mild cognitive impairment is a transitional state between normal aging and dementia, and early recognition of Parkinson's disease with mild cognitive impairment (PD-MCI) can help improve the quality of life and treatment for patients. This study investigated the association of enlarged perivascular space (EPVS) and white matter hyperintensity (WMH) with PD-MCI. This study aimed to evaluate whether EPVS and WMH can be used as potential MRI markers for PD-MCI. This retrospective study involved 200 patients with PD who underwent cranial MRI in our hospital from April 2021 to April 2022. Patients were divided into those with no cognitive impairment (PD-NCI) or mild cognitive impairment. Uni- and multivariate logistic regression analyzed associations of EPVS, WMH, and clinicodemographic characteristics with cognitive decline. Univariate regression identified severe EPVS in basal ganglia, severe WMH, older age, late-onset, male sex, low educational level, longer duration of disease, low triglycerides, low uric acid, and low scores on the Mini-mental State Exam as risk factors for PD-MCI. After adjusting for clinicodemographic risk factors in multivariate regression, low education level and EPVS in basal ganglia remained risk factors for cognitive impairment. Severe EPVS in basal ganglia and poor education, but not WMH, are independent risk factors of PD-MCI. Our findings suggest that non-invasive detection of EPVS in basal ganglia by MRI may be a valuable early indicator of cognitive decline in PD patients.

A Comparison of Pre- and Post-Treatment Cranial MRI Characteristics in Patients with Pediatric Epilepsy Receiving Levetiracetam.

Background and Objectives: This study was performed for the purpose of assessing whether antiepileptic levetiracetam treatment produces a change in brain volumes in children with epilepsy. To that end, we compared the volumes of the basal ganglia (caudate nucleus, putamen, globus, hip-pocampus, and thalamus) at magnetic resonance imaging (MRI) before and after treatment (months 18-24) in pediatric epilepsy patients using levetiracetam. Materials and Methods: This retrospective study involved a volumetric comparison of patients presenting to the Balikesir University Medical Faculty pediatric neurology clinic between 01.08.2019 and 01.11.2023 and diagnosed with epilepsy, and who underwent cranial MRI before and 18-24 months after treatment at the radiology department. The demographic and clinical characteristics (age, sex, family history of epilepsy, type of epilepsy, and EEG features (normal, abnormal, epileptiform)) of the patients included in the study were recorded. Results: The comparison of basal ganglia volumes at cranial MRI before and at months 18-24 of treatment revealed significant differences in the left caudate nucleus, right putamen, left putamen, left globus pallidus, right thalamus, left thalamus, and right hippocampal regions. Conclusions: In conclusion, differing findings are encountered at cranial imaging in patients with epilepsy, depending on the seizure frequency, activity, and the type of antiepileptic drugs used. This study compared basal ganglia volumes on cranial MRIs taken before and 18-24 months after treatment in pediatric epilepsy patients using levetiracetam. A significant increase was observed in the volumes of basal ganglia (caudate nucleus, putamen, globus pallidus, hippocampus, and thalamus) on the MRIs of pediatric epilepsy patients using levetiracetam.

Case Report: Radiofrequency Pulsed Therapy for Glossopharyngeal Neuralgia with Associated Syncope

Glossopharyngeal neuralgia (GPN) is characterized by paroxysmal, severe, and lancinating pain at the base of the tongue and throat on one side, often radiating to the oropharynx or ear. The intensity of the pain can be debilitating and, in severe cases, may be accompanied by potentially life-threatening conditions such as cardiac arrhythmias and syncope, significantly impacting the patient&amp;apos;s quality of life. The incidence of GPN is low, and there is limited clinical awareness and understanding of the condition, leading to a high rate of misdiagnosis. In recent years, pulsed radiofrequency has emerged as an effective and minimally invasive treatment modality for the management of GPN. We report a case of a 56-year-old male patient with recurrent glossopharyngeal neuralgia accompanied by syncope. The patient tested positive for the topical application of local anesthetics, and cranial nerve magnetic resonance imaging (MRI) revealed compression of the right glossopharyngeal nerve by a small blood vessel. Both 24-hour Holter monitoring and video electroencephalography (EEG) showed no abnormalities. In addition to treatment with carbamazepine and pregabalin, the patient&amp;apos;s pain as well as syncope resolved after two sessions of CT (ComputedTomography)-guided pulsed radiofrequency (PRF) therapy of the glossopharyngeal nerve. Clinicians should be aware of the rare clinical occurrence of glossopharyngeal neuralgia with syncope. PRF is a measure of safe and effective which could be considered the first choice for minimally invasive therapy.

Natural history and outcome of nonketotic hyperglycinemia in China.

Nonketotic hyperglycinemia (NKH) is a rare, life-threatening genetic disorder. The patients usually show heterogeneous and nonspecific symptoms, resulting in diagnosis challenges using conventional approaches. Here, the clinical presentation and genetic features of 20 Chinese patients were examined and reported in order to clarify the natural history and prognosis of NKH in China. The Human Gene Mutation Database and literature regarding NKH in China were reviewed. Age of onset, clinical characteristics, genetic analysis, cranial magnetic resonance imaging (MRI) and electroencephalography (EEG) examinations, and outcome of the patients were analyzed. Natural history experiences and follow-up assays for five patients who were followed in our center were described. Among all 20 NKH patients, 17 (85%) had the neonatal type and 3 (15%) had the infantile type, no late-onset cases were detected. Patients showed up for admission with a history of seizures (15/20), lethargy (14/20), hypotonia (11/20), apnea (9/20), and feeble sobbing (4/20). Brain MRI findings included abnormal signals in the internal capsule, cerebellum, or brainstem (6/14), dysplasia of the corpus callosum (5/14), and white matter abnormalities (3/14). EEG evaluations showed anomalies such as burst suppression (4/8) and hypsarrhythmia and/or epileptic activity (6/8). Median values of cerebrospinal fluid (CSF) glycine levels, plasma glycine levels and CSF/plasma glycine ratios were135.2 (range, 6.3-546.3) μmol/L, 998.2 (range,75-3,084) μmol/L, 0.16 (range, 0.03-0.60) respectively. Genetic analyses revealed four new variations and GLDC, AMT gene abnormalities in 13 (65%), 7 (35%) case, respectively. Prognosis information was available for 18 cases: nine patients died, eight in the neonatal period. Among the nine survivors, varying developmental disorders were observed. Different disease processes and outcomes were found in Chinese NKH patients, according to this study. The initial clinical presentations, CSF glycine levels and CSF to plasma glycine ratios do not reliably predict prognosis, while MRI and EEG abnormalities may indicate a poor outlook. NKH diagnosis should be considered for neonates presenting specific symptoms. The present survey provides clinical data that support the development of a standardized protocol for diagnosing and treating NKH in China.

Difference in Laterality of the Dorsal Striatum in Schizoaffective Disorder.

Recent research has demonstrated that the dorsal striatum is directly associated with the integration of cognitive, sensory-motor, and motivational/emotional data. Disruptions in the corticostriatal circuit have been implicated in the pathophysiology of psychosis. The dorsal striatum was reported to show lateralized pathology in psychotic disorders. In this study, we aimed to analyze the laterality of the dorsal striatum with texture analysis of T2-weighted magnetic resonance imaging (MRI) images from schizoaffective disorder (SAD) patients. Twenty SAD patients, met the inclusion criteria and had available cranial MRI data were assigned as the patient group. Twenty healthy individuals were determined as the control group. Texture analysis values were obtained from striatum region of interests (ROI) generated from T2-weighted MRI images. Data are presented as mean and standard deviation. The suitability of the data for normal distribution was analyzed with the Kolmogorov-Smirnov test. Analysis of variance (ANOVA) test (Post Hoc TUKEY) was employed to compare the group data based on test findings. There was no significant difference between the groups in terms of gender and age. There were differences in the values of texture analysis parameters of both caudate and putamen nuclei in comparison to controls. We identified differences in the left dorsal striatum nuclei in SAD. The differences in the putamen were more and more pronounced than in the caudate. Texture analyses suggest that the left dorsal striatum nuclei may be different in SAD patients. Further studies are needed to determine the pathophysiology of SAD and how it may affect disease treatment.

A crisis awareness chain warning management model for patients with difficulties cooperating with magnetic resonance examinations.

This case-control study tested a crisis awareness-based chain warning management model for patients with difficulties cooperating with magnetic resonance imaging (MRI) examinations. All participants experienced difficulties cooperating with MRI examinations and underwent cranial magnetic resonance spectroscopy (MRS) and MRI at the same hospital in China. The control group (n = 1233) underwent examinations from January to June 2023 and received routine nursing care (pre-examination safety notification, instructions on cooperating during the examination, post-examination observation). A crisis awareness chain warning management model was implemented for the intervention group (n = 1352), who underwent examinations from July to December 2023. The groups were compared on average time for examination completion, quality of care and occurrence of complications. Data were collected using a self-devised data collection form. The average length of time to complete MRS and MRI was shorter for intervention group patients than for control group patients. The intervention group showed better pre-examination preparation, examination success rate, image quality attainment rate, and one-time examination success rate, and lower incidence of examination-related complications. This management model could increase MRI examination efficiency, improve quality of care, reduce complications and increase nurses' understanding of nursing continuity and crisis awareness.

MRI analysis of neurodevelopmental anatomy in myelomeningocele: prenatal vs postnatal repair.

Compared with postnatal repair, prenatal myelomeningocele (MMC) repair is associated with improved motor function and decreased need for cerebrospinal fluid (CSF) diversion. It is unknown how prenatal surgery alters neuroanatomical structures identifiable on magnetic resonance imaging (MRI). The purpose of this study was to use MRI to compare neurodevelopmental anatomy in patients undergoing fetal MMC repair compared with those undergoing postnatal repair. This was a retrospective review of neonates who underwent prenatal or postnatal MMC repair at our institution between 2016 and 2021. Imaging data, including prenatal ultrasound and pre- and postnatal MRI examinations, if available, were retrieved. We analyzed anatomical findings characteristically seen on MRI of the neuroaxis in patients with MMC and compared imaging findings between patients with prenatal vs postnatal MMC repair. The study population included 61 patients who underwent surgical repair for MMC during the 6-year study period, of whom 25 underwent prenatal repair and 36 postnatal repair. CSF diversion was required in 24% of the prenatally repaired cohort vs 67% of the postnatally repaired cohort (P = 0.001). On postnatal MRI, a syrinx was present in 13% of the prenatally repaired cohort vs 42% in the postnatally repaired cohort (P = 0.02). Postnatal corpus callosal (CC) morphology was abnormal in 54% of the prenatally repaired cohort vs 53% of the postnatally repaired cohort (P = 0.92), while falx morphology was normal in 92% of the prenatally repaired cohort vs 34% of the postnatally repaired cohort (P < 0.001). On postnatal MRI, patients in the prenatally repaired cohort had a shorter tentorium-to-foramen-magnum distance compared with those in the postnatally repaired cohort (mean, 18.43 mm vs 22.42 mm; P = 0.01), a larger foramen magnum diameter (mean, 22.87 mm vs 18.94 mm; P < 0.001) and a smaller degree of hindbrain herniation (mean, 1.53 mm vs 8.72 mm; P < 0.001). The cerebral aqueduct was patent in 79% of the prenatally repaired cohort vs 100% of the postnatally repaired cohort on postnatal MRI (P = 0.008). Between the two cohorts, at postnatal MRI there was no significant difference in the presence of gray-matter heterotopia, presence of the septum pellucidum or size of the massa intermedia. We report variations in developmental neuroanatomy in patients with MMC, including rates of CC dysgenesis, gray-matter heterotopia and additional cranial and spinal MRI findings. Compared to postnatal surgery, prenatal surgery is associated with changes to infratentorial anatomy, with minimal effect on supratentorial brain development. This information will be useful in counseling parents affected by fetal MMC and in understanding how prenatal repair of MMC affects brain development. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.

Joubert syndrome a rare genetic disorder, is characterized by abnormalities in the development of the central nervous system with "molar signs" on magnetic resonance imaging of the brain and accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. Keratoconus (KC) is a kind of genetically predisposed eye disease that causes blindness characterized by a dilated thinning of the central or paracentral cornea conically projected forward, highly irregular astigmatism, and severe visual impairment. Klinefelter syndrome is caused by an extra X chromosome in the cells of male patients, and the main phenotype is tall stature and dysplasia with secondary sex characteristics. This study was intended to identify the genetic etiology and determine the clinical diagnosis of one Han Chinese family with specific clinical manifestations of keratoconus and multiorgan involvement. A comprehensive ocular and related general examination was performed on one patient and his asymptomatic parents and brother. Pathogenic genes were tested by exome sequencing. CNV-seq was used to verify the copy number variation, and peripheral blood was cultured for karyotype analysis. The pathogenicity of the identified variant was determined subject to ACMG guidelines. The Gene Expression Omnibus (GEO) dataset of keratoconus-related genes in the NCBI database was obtained to analyze the differentially expressed genes in corneal tissues of the keratoconus group and the normal control group, and analysis of protein-protein interaction networks (PPI) was performed. Proband, a 25-year-old male, had sudden loss of vision in the left eye for 1 week. Best corrected visual acuity (BCVA): 0.5 (-1.00DS/-5.00DC*29°) in the right eye, counting fingers/40cm in the left eye. Slit-lamp microscopy of the right eye showed mild anterior protrusion of the cornea and thinning of the cone-topped cornea. The left eye showed marked thinning of the central region of the cornea, rounded edema in the form of a cone-like bulge, epithelial bullae, edema and turbidity of the stroma, and bulging of the Descemet's membrane. Cranial magnetic resonance imaging (MRI) revealed changes in the midbrain and cerebellum, with a "molar sign" and a "bat-winged" ventriculus quartus cerebri. General check-up: 168cm in height, decreased muscle tone in all four limbs, knee jerk elicited, negative Babinski sign, abdominal reflexes elicited, finger-to-nose test positive, intentional tremor evident in both hands, positive Romberg's sign, instability of gait, level I intellectual disability, poor adaptive behavior, communication disorders, teeth all dentures, a peculiar face with blepharophimosis, wide inner canthus distance, mild ptosis, severe positive epicanthus, high palatal arches, exotropia, hypotrichosis of beard and face, inconspicuous prominentia laryngea, and short upper and lower limbs. Exome sequencing detected compound heterozygous frameshift variants M1:c.9279dup:p.His3094Thrfs*18 and M2:c.6515_6522del:p.Lys2172Thrfs*37 in the patient's CPLANE1 gene and the presence of duplication-type CNV on the X chromosome. Sanger sequencing showed that the mother and father carried the M1 and M2 variants, respectively, and the younger brother carried the M2 variant, which was a novel variant. CNV-seq analysis showed the presence of a duplication-type CNV Xp22.33-Xq28 (2757837-156030895) of approximately 155Mb on the X chromosome of the proband, which was a de novo variant and carried by neither of the parents. The two heterozygous frameshift variants and duplication-type CNV were pathogenic according to the ACMG guidelines. Differential expression analysis of keratoconus-related genes showed that CPLANE1 was upregulated in the corneal tissues of keratoconus patients compared with normal controls, and such a difference was statistically significant (p = 0.000515, <0.05). PPI analysis showed that the CPLANE1-NPHP3 complex protein acted as a bridge between cilia and extracellular matrix tissue. According to the genetic test results and clinical phenotype analysis, the family was finally diagnosed with Joubert syndrome combined with Keratoconus and Klinefelter syndrome. In this study, we report a proband in a Han Chinese family with both Joubert syndrome and X-linked Klinefelter syndrome as well as keratoconus, and the phenotype spectrum of CPLANE1-Joubert syndrome may be expanded accordingly. Meanwhile, the significance of exome sequencing was emphasized in aiding the clinical diagnosis of complex cases, which is difficult to make.