OBJECTIVE: To explore the genotype-phenotype correlation in a Chinese family with structural brain abnormalities due to variant of the TUBB gene. METHODS: A family undergoing prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital in October 2024 was selected as the study subject. Clinical data were collected. Amniotic fluid sample was subjected to chromosomal copy number variation sequencing (CNV-seq). Trio whole-exome sequencing (Trio-WES) was carried out on the amniotic fluid and parental blood samples, and candidate variant was verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-KY-076-01). RESULTS: Both prenatal ultrasound and fetal MRI showed deviation of brain midline, unilateral lateral ventriculomegaly, and bilateral gyral asymmetry. Trio-WES revealed that the fetus has harbored a maternally derived heterozygous missense variant of the TUBB gene [NM_178014.4: c.155A>G (p.N52S)]. Sanger sequencing confirmed that the woman and a previously terminated fetus both harbored the same variant. Both the proband and two fetuses exhibited similar neuroimaging abnormalities including midline deviation and asymmetrical gyri. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_Supporting+PS2_Moderate+PS3). CONCLUSION The heterozygous c.155A>G (p.N52S) variant was the TUBB gene probably underlay the pathogenesis of the structural brain abnormalities in this family. Above findings have expanded the phenotypic spectrum associated with the variant and facilitated the prenatal diagnosis for this family.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis ; Tubulin/genetics* ; Adult ; Brain/diagnostic imaging* ; Male ; Pedigree ; DNA Copy Number Variations/genetics* ; Exome Sequencing ; Genetic Association Studies ; Magnetic Resonance Imaging

Valacyclovir-associated neurotoxicity (VAN) is a recognized adverse effect in elderly patients with renal impairment but remains underdiagnosed due to its nonspecific presentation and overlap with acute neurologic emergencies. We report a 78-year-old Filipino female with end-stage renal disease on maintenance hemodialysis who developed acute disorientation, agitation, vivid visual hallucinations and generalized weakness shortly after initiation of valacyclovir for herpes zoster. Given the abrupt onset of neuropsychiatric symptoms, viral encephalitis was initially considered. Magnetic resonance imaging of the brain showed no evidence of acute infarction or encephalitis, while electroencephalography demonstrated diffuse generalized slowing consistent with an encephalopathic process. Review of the medication history revealed valacyclovir dosing that exceeded recommendations for patients with end-stage renal disease. Valacyclovir was discontinued and emergent hemodialysis was initiated resulting in marked improvement in sensorium after the second session and complete resolution of symptoms after the third. This case shows VAN as an important diagnostic mimic of acute encephalopathy in elderly patients with renal failure and emphasizes the critical role of early medication review in preventing unnecessary investigations and enabling prompt, reversible management.

BACKGROUND

Magnetic resonance imaging (MRI) has gained increased diagnostic utility for patients with transient global amnesia (TGA), particularly for unwitnessed events or those with diagnostic uncertainty based on clinical grounds.

The objectives are first, to determine the demographic and comorbid conditions of TGA patients; second, to determine the percentage of MRI diffusion weighted imaging (MRI DWI) hippocampal lesions, their time relationship from symptom onset, and their morphological characteristics; and lastly, to determine the dementia visual rating scale scores on neuroimaging for these patients.

A total of 20 TGA patients in a tertiary hospital from 2018 to 2022 were included in this retrospective study, and their medical records and neuroimaging were reviewed.

TGA patients had a mean age of 61.4 years and a female predominance. Prevalent comorbid conditions include hypertension, dyslipidemia, and diabetes, and the majority were discharged with antithrombotic medications. An emotionally triggering event was identified in 15% (n = 3). Mean symptom onset-to-scan time was 8.33 h, and one patient (detection rate of 5%) who underwent neuroimaging after 21.7 h demonstrated typical punctate hippocampal DWI hyperintensity. None exhibited significant cortical atrophy.

TGA patients showed female predominance, occurring mostly within the 5th–6th decade, with a moderate prevalence of vascular risk factors and absence of significant cerebral atrophy based on the Dementia Visual Rating Scales. A conventional MRI protocol yielded a 5% detection rate with a delay of 21 h from symptom onset. Hence, in a resource-limited setting such as the Philippines, it may be suggested, with limited evidence, that performing the procedure in TGA patients when the event is unwitnessed or uncertain could be reasonable, as correctly diagnosing TGA has therapeutic implications. Further studies may investigate prospectively the diagnostic utility of MRI, neuropsychological profile, and estimate cardiovascular and cognitive deterioration risk.

Image-guided thermal ablation (IGTA) has been widely used in the treatment of liver tumors. MRI-guided thermal ablation of liver tumors offers several advantages, including the absence of ionizing radiation; excellent soft-tissue contrast; multi-parametric and multiplanar imaging; non-invasive, real-time temperature monitoring of the thermal field during the procedure; and accurate post-procedural assessment of therapeutic efficacy. To standardize and promote MRI-guided thermal ablation for liver tumors in China, advance the technological development of IGTA for tumor treatment, and enhance the efficacy of "precision ablation" for hepatic tumors, this expert consensus (2025 edition) was collaboratively developed by national experts from multiple societies and committees through multidisciplinary discussions. The contributing groups included the Society of Tumor Ablation Therapy of the Chinese Anti-Cancer Association, the Ablation Expert Committee of the Chinese Society of Clinical Oncology (CSCO), the Tumor Ablation Subgroup of the National Health Commission Comprehensive Interventional Therapy Quality Control Center, the Expert Group on Tumor Ablation Therapy of the Chinese Medical Doctors Association, and the Tumor Ablation Committee of the Chinese College of Interventionalists. The main contents of the consensus include: (1) indications, contraindications, and characteristics of MRI-guided thermal ablation for liver tumors; (2) MRI magnets, guidance sequences, and MRI-compatible thermal ablation equipment and instruments; and (3) protocols for MRI-guided thermal ablation of liver tumors, efficacy assessment, and the prevention and management of complications.
Humans ; Liver Neoplasms/surgery* ; Magnetic Resonance Imaging ; Consensus ; China ; Catheter Ablation/methods* ; Ablation Techniques/methods* ; Surgery, Computer-Assisted

OBJECTIVES: Magnetic resonance imaging (MRI) was used to study the efficacy of modified anterior splint (MAS) combined with anterior repositioning splint (ARS) in maintaining the normal disk-condyle relationship. METHODS: We obtained clinical and imaging data of 10 patients with acute anterior disk displacement without reduction (ADDwoR) of the temporomandibular joint undergoing successful mandibular manipulation in the Affiliated Stomatological Hospital, Nanchang University from January to June 2024. The MAS and ARS were used for subsequent treatment. Maximum active mouth opening (MMO) and visual analogue score (VAS) were recorded before treatment and 2 weeks, 1 month, and 3 months after treatment. The changes in the disk-condyle relationship, disk-condyle angle, joint effusion, and double contour sign before and after treatment were analyzed through MRI. RESULTS: Three months after treatment, the MMO increased from 28.90 mm to 46.85 mm, VAS decreased from 4.68 to 0.61, and the disk-condyle angle decreased from 58.84° to 25.99°. MRI analysis found that 6 patients showed normal disk-condyle relationship, 2 patients exhibited displacement with reduction, and 2 patients exhibited ADDwoR. The disk-condyle angle was 58.84° before treatment and 25.99° after treatment. CONCLUSIONS The MAS combined with ARS could further stabilize the coordinated disk-condyle relationship and reduce the recurrence rate.
Humans ; Male ; Magnetic Resonance Imaging ; Female ; Adult ; Temporomandibular Joint Disorders/diagnostic imaging* ; Splints ; Middle Aged ; Mandible ; Temporomandibular Joint Disc ; Occlusal Splints ; Temporomandibular Joint ; Young Adult ; Joint Dislocations/therapy*

OBJECTIVES: This study aimed to evaluate the effect of disc morphology and disc-condyle angle on the treatment of anterior repositioning splint (ARS) for anterior disc displacement with reduction (ADDwR). METHODS: On the basis of the inclusion and exclusion criteria, a total of 11 patients diagnosed with ADDwR were included. The effects of changes in disc length, thickness, and morphology classifications on the clinical symptoms, disc morphology parameters, and disc-condyle angles after ARS treatment were evaluated using magnetic resonance imaging and the Helkimo index. RESULTS: After ARS treatment, the Ai and Di of all patients with ADDwR decreased, the disc length increased, and the thickness decreased. The Ai of patients with slight ADDwR and those with type 1 joint discs was reduced to 0, with the most significant decrease observed in Di. The disc length of mild ADDwR (increased to 8.65 mm±1.79 mm) and type 5 disc (increased to 10.71 mm±2.62 mm) significantly increased the most. The disc thickness of slight ADDwR decreased to 3.08 mm±0.51 mm significantly. CONCLUSIONS The therapeutic effect of ARS is correlated with the displacement degree and morphological features of the disc, providing evidence for clinical treatment decisions.
Humans ; Magnetic Resonance Imaging ; Conservative Treatment ; Temporomandibular Joint Disc/diagnostic imaging* ; Male ; Adult ; Female ; Intervertebral Disc Displacement/pathology* ; Middle Aged

Heart failure is a complex clinical syndrome and pediatric heart failure (PHF) has a high mortality rate. Early diagnosis is crucial for treatment and management of PHF. In clinical practice, various tests and examinations play a key role in the diagnosis of PHF, including continuously updated biomarkers, echocardiography, and cardiac magnetic resonance imaging. This article focuses on summarizing relevant research on biomarkers, examinations, combined testing, clinical models, and the grading and staging of PHF diagnosis, aiming to provide insights and directions for the diagnosis of PHF.
Humans ; Heart Failure/diagnosis* ; Child ; Biomarkers/blood* ; Echocardiography ; Magnetic Resonance Imaging

OBJECTIVES: To evaluate preterm white matter injury (PWMI) in neonatal rats using multimodal magnetic resonance imaging (MRI) combined with histological assessments and to explore its underlying mechanisms. METHODS: Healthy 3-day-old Sprague-Dawley neonatal rats were randomly divided into a sham operation group and a PWMI group (n=12 in each group). A PWMI model was established in neonatal rats through hypoxia-ischemia. Laser speckle imaging was used to observe changes in cerebral oxygen saturation and blood flow at different time points post-modeling. Multimodal MRI was employed to assess the condition of white matter injury, while hematoxylin-eosin staining was utilized to observe morphological changes in the striatal area on the injured side. Immunofluorescence staining was performed to detect the proliferation and differentiation of oligodendrocyte precursor cells. RESULTS: At 0, 6, 12, 24, and 72 hours post-modeling, the relative blood flow and relative oxygen saturation on the injured side in the PWMI group were significantly lower than those in the sham operation group (P<0.05). At 24 hours post-modeling, T2-weighted imaging showed high signals in the white matter of the injured side in the PWMI group, with relative apparent diffusion coefficient values and Lorenz differential values being lower than those in the sham operation group (P<0.001); additionally, the arrangement of nerve cells in the PWMI group was disordered, and the number of EdU⁺PDGFR-α⁺ cells was higher than that in the sham operation group (P<0.001). At 28 days post-modeling, the relative fractional anisotropy values, the number of EdU⁺Olig2⁺ cells, and the fluorescence intensity of myelin basic protein and neurofilament protein 200 in the white matter region of the PWMI group were all lower than those in the sham operation group (P<0.001). CONCLUSIONS Multimodal MRI can evaluate early and long-term changes in PWMI in neonatal rat models in vivo, providing both imaging and pathological evidence for the diagnosis and treatment of PWMI in neonates. Hypoxia-ischemia inhibits the proliferation and differentiation of oligodendrocyte precursor cells in neonatal rats, leading to PWMI.
Animals ; Rats, Sprague-Dawley ; Magnetic Resonance Imaging/methods* ; Rats ; White Matter/injuries* ; Animals, Newborn ; Female ; Multimodal Imaging ; Male ; Hypoxia-Ischemia, Brain/pathology*

OBJECTIVES: To explore the relationship between white matter injury (WMI) and cerebral perfusion in preterm infants using arterial spin labeling (ASL). METHODS: A total of 293 preterm infants (gestational age <34 weeks) hospitalized at the Third Affiliated Hospital of Zhengzhou University between June 2022 and June 2024 were included. After achieving clinical stability, the infants underwent brain magnetic resonance imaging (MRI) and ASL. Based on MRI findings, infants were classified into WMI (n=66) and non-WMI (n=227) groups. Cerebral perfusion parameters were compared between groups, and the association between WMI and perfusion alterations was evaluated. RESULTS: The WMI group showed a higher incidence of mild intraventricular hemorrhage (IVH) than the non-WMI group (P<0.05). Significantly lower cerebral perfusion was observed in the WMI group across bilateral frontal, temporal, parietal, and occipital lobes, as well as the basal ganglia and thalamus (P<0.05). After adjusting for gestational age, corrected gestational age at ASL scan, and mild IVH, WMI remained significantly associated with reduced regional perfusion (P<0.05). CONCLUSIONS WMI in preterm infants correlates with localized cerebral hypoperfusion. ASL-detected perfusion abnormalities may provide novel insights into WMI pathogenesis.
Humans ; White Matter/blood supply* ; Infant, Newborn ; Spin Labels ; Infant, Premature ; Female ; Male ; Cerebrovascular Circulation ; Magnetic Resonance Imaging

A 14-year-old boy was admitted to the hospital due to a single episode of afebrile seizure and four hours of impaired consciousness. Three months prior to admission, he had a history of bilateral uveitis. Cerebrospinal fluid analysis revealed a mild elevation in white blood cell count. Cranial magnetic resonance imaging and contrast-enhanced scans showed multiple abnormal signals in both cerebral hemispheres, with punctate and nodular enhancement. Susceptibility-weighted imaging revealed multiple punctate hemorrhages within lesions in the bilateral frontal and left parietal lobes, suggestive of vasculitis. Brain biopsy demonstrated inflammatory granulomatous lesions. No secondary causes were identified, and the final diagnosis was granulomatous primary central nervous system vasculitis. The patient's condition improved after treatment with methylprednisolone sodium succinate and mycophenolate mofetil. This report describes a rare case of granulomatous central nervous system vasculitis in a child and provides valuable insights for the diagnosis and treatment of this disease.
Humans ; Male ; Vasculitis, Central Nervous System/diagnosis* ; Adolescent ; Magnetic Resonance Imaging ; Granuloma/diagnosis*