Cerebral venous thrombosis with hyperhomocysteinemia due to loss of heterozygosity at methylenetetrahydrofolate reductase (MTHFR) locus: a case report.

BACKGROUND: Loss of heterozygosity (LOH) at methylenetetrahydrofolate reductase (MTHFR) locus has been reported in tumor tissue. But the mutation was never reported in cerebral venous thrombosis (CVT) with hyperhomocysteinemia (HHcy) before. CASE PRESENTATION: A 14-year-old girl was admitted with an intermittent headache and nausea for 2 months. The plasma homocysteine level was 77.2 µmol/L. Lumbar puncture revealed an intracranial pressure > 330 mmH2O. Cerebral MRI and MRV revealed superior sagittal sinus thrombosis. Whole-exome sequencing revealed LOH at Chr1:11836597-11,867,232 affects exons 10-21 of C1orf167, the entire MTHFR, and exons 1-2 of the CLCN6 gene. The normal allele was the c.665 C > T/677 C > T variant in MTHFR. The patient was treated with nadroparin for 2 weeks, followed by oral rivaroxaban. Supplemental folate and vitamins B12 and B6 were prescribed. One month later, she had no headache and the intracranial pressure had decreased to 215 mmH2O. MRI showed shrinkage of the thrombosis in the superior sagittal sinus, the degree of stenosis had significantly decreased. CONCLUSIONS: Rare LOH at the MTHFR locus should be analyzed in CVT with HHcy. With anticoagulation treatment, the prognosis was good.

Deep learning based MRI reconstruction with transformer.

Magnetic resonance imaging (MRI) has become one of the most powerful imaging techniques in medical diagnosis, yet the prolonged scanning time becomes a bottleneck for application. Reconstruction methods based on compress sensing (CS) have made progress in reducing this cost by acquiring fewer points in the k-space. Traditional CS methods impose restrictions from different sparse domains to regularize the optimization that always requires balancing time with accuracy. Neural network techniques enable learning a better prior from sample pairs and generating the results in an analytic way. In this paper, we propose a deep learning based reconstruction method to restore high-quality MRI images from undersampled k-space data in an end-to-end style. Unlike prior literature adopting convolutional neural networks (CNN), advanced Swin Transformer is used as the backbone of our work, which proved to be powerful in extracting deep features of the image. In addition, we combined the k-space consistency in the output and further improved the quality. We compared our models with several reconstruction methods and variants, and the experiment results proved that our model achieves the best results in samples at low sampling rates. The source code of KTMR could be acquired at https://github.com/BITwzl/KTMR.

Transverse myelitis associated with primary biliary cirrhosis: clinical, laboratory, and neuroradiological features.

PURPOSE: Only five patients diagnosed with transverse myelitis (TM) associated with primary biliary cirrhosis (PBC) have been reported in the literature to date. We report two additional patients with TM associated with PBC at our hospital and review all seven cases. MATERIALS AND METHODS: An association between neuromyelitis optic spectrum disease (NMOSD) and PBC is reported for the first time in one of our patients. The second patient was diagnosed with TM associated with PBC without Sjögren's syndrome (SS). A literature review was performed using the PubMed database. RESULTS: All patients diagnosed with TM associated with PBC were female with a median age of 53 years. TM was associated with SS in 71.4% of the patients. Complete TM and incomplete TM were diagnosed in 71.4% and 28.6% of the patients. The erythrocyte sedimentation rate was increased in 83.3% of patients. All patients were positive for anti-mitochondrial antibodies. Other autoantibodies, including anti-nuclear antibodies, rheumatoid factor, anti-SSA antibody, were detected in some patients. Cerebrospinal fluid analysis was abnormal in 83.3% of patients. The spinal cord lesions involved more than three vertebral segments in 85.7% of patients. Glucocorticoids were administered in 85.7% of patients, and good responses were observed. CONCLUSIONS: The association between TM and PBC may be missed by neurologists. More attention should be paid to the association between NMOSD and PBC. Most patients show SS and may experience relapse, and there is a good rationale for early commencement of immunosuppressive therapy.

Two New Zn(II)/Cu(II) Compounds: Photoluminescent and Photocatalytic Properties, and Protective Activity on Parkinson Disease.

Two coordination polymers, that is [Zn(pdc)(im)(H2O)]n (1) and [Cu(pdc)(im)2]n·n(H2pdc) (2) (H2pdc = terephthalic acid, im = imidazole), were hydrothermally synthesized via the reactions of H2pdc and im in combination with Zn(II) or Cu(II) ions. Compound 1 shows intense blue luminescence and compound 2 shows good photocatalytic activity for the methyl violet degradation under the irradiation of ultraviolet light. In addition, the assessment of the two compounds' application values against Parkinson's disease were carried out and their specific mechanism was tested simultaneously. First of all, the real time RT-PCR was implemented and the relative expression levels of N-methyl-D-aspartic acid receptor receptor on neurons were measured. Besides, the Annexin V-FITC/PI apoptosis assay was utilized for the assessment of the influence of the compounds on the dopaminergic neuron death rate. The hemolysis toxicity detection was conducted to detect the biocompatible of the compounds.

Relapses shortly after rituximab treatment in neuromyelitis optica spectrum disorder.

OBJECTIVE: Rituximab (RTX), an anti-CD20 monoclonal antibody, has been demonstrated to be a useful maintenance therapy for neuromyelitis optica spectrum disorder (NMOSD). However, few patients may suffer from relapses shortly after RTX. In order to investigate the clinical features of RTX-related relapses and guide therapeutic strategy, 3 patients in our department were reported and literatures were reviewed. METHODS: We reported three NMOSD patients suffered from relapses shortly after rituximab treatment in our hospital and reviewed 13 patients reported in literatures. Their demographic characteristics, clinical features and therapeutic strategy were retrospectively analyzed. RESULTS: Sixteen patients, including three cases reported in this study, experienced 21 attacks within 1 month after RTX infusion. All of them were women with an age at onset of 34.0 ± 15.0 years. Fourteen patients were seropositive for aquaporin-4 antibody, and one was seropositive for myelin oligodendrocyte glycoprotein antibody. 57.1% (12/21) of RTX-related relapses occurred after the first use of RTX. Their clinical manifestations included optic neuritis (8/21), myelitis (11/21), and the other two relapses without detailed descriptions. Also, 62.5% (10/16) of patients had a history of prior relapses within 3 months before RTX infusions, and the location of nine relapses overlapped with previous relapses. RTX was given again after the first RTX-related relapse in eight patients, three of them with low-dosage RTX stayed stable for years, and five patients with full-dosage RTX experienced another RTX-related relapse. CONCLUSIONS: Relapses may occur shortly after RTX treatment in NMOSD. RTX-related relapse did not necessarily mean that RTX was ineffective in low-dosage regimen. Timely and sufficient treatment of RTX is crucial to prevent a relapse. It may be more reasonable to monitor B cell repopulation so as to determine a re-treatment regimen. RTX-related relapse following full-dosage RTX may be a predictor for a second time RTX-related relapse and it may be reasonable to switch to other immunosuppressants in early stage.

Rare anterior funiculus lesions in subacute combined degeneration of the spinal cord: a case report and literature review.

Objective: Anterior funiculus lesion is uncommon in subacute combined degeneration of the spinal cord with few data available. Aim of the study was to describe a case with the rare manifestation and summarize existing literatures.Methods: We report a case of a 42-year-old woman with anterior and lateral funiculus lesions on cervicothoracic spine magnetic resonance imaging, who presented with unsteady gait, sensory level and weakness of lower limbs. Besides, we reviewed and analyzed literatures about subacute combined degeneration of the spinal cord with anterior funiculus lesions published during the past two decades.Results: The diagnosis of subacute combined degeneration of the spinal cord was considered due to her presence of low serum vitamin B12 levels, pernicious anemia and gastric carcinoid.Conclusion: Physicians should consider subacute combined degeneration of the spinal cord as a possible differential diagnosis when faced with atypical lesions distributed in the anterior funiculus.

Enhancing the Sensitivity of Lateral Flow Immunoassay by Centrifugation-Assisted Flow Control.

Lateral flow immunoassay (LFIA) is widely used but is limited by its sensitivity. In this study, a novel centrifugation-assisted lateral flow immunoassay (CLFIA) was proposed that had enhanced sensitivity compared to traditional LFIA based on test strips. For CLFIA, a vaulted piece of nitrocellulose membrane was prepared and inserted into a centrifugal disc. Powered by the centrifugal force, the sample volume on the disc was not limited and the flow rate of the reaction fluid was steady and adjustable at different rotation speeds. It was found that lower rotation speeds and larger sample volumes resulted in greater signal intensity in the nitrocellulose membrane as well as higher sensitivity, indicating that the actively controlled flow on the disc allowed for sensitivity enhancement of CLFIA. To operate CLFIA on the centrifugal disc, a portable and cost-effective operating device was constructed to rotate the disc with a stepper motor and collect the results with a smartphone. The proposed method was successfully applied to detect prostate specific antigen (PSA) in human serum. Standard curves were established for CLFIA and LFIA, and both had correlation coefficients of up to 0.99. Under optimal conditions (1500 rpm rotation speed, 120 µL sample volume), the detection limit of CLFIA reached 0.067 ng/mL, showing a 6.2-fold improvement in sensitivity compared to that of LFIA. With clinical serum samples, a good correlation was observed between PSA concentrations measured by CLFIA and by a bulky commercial instrument in hospital. In summary, this portable, cost-effective, and easy-to-use system holds great promise for biomarker detection with enhanced sensitivity compared to traditional LFIA.

Effectiveness and safety of immunosuppressive therapy in neuromyelitis optica spectrum disorder during pregnancy.

OBJECTIVE: To evaluate the effectiveness and safety of immunosuppressive therapy in neuromyelitis optica spectrum disorder (NMOSD) during pregnancy. METHODS: Sixteen NMOSD patients who had at least one pregnancy after NMOSD onset were enrolled. The patients were divided into two groups according to whether they received immunosuppressive therapy during pregnancy. The annual relapse rate (ARR) before pregnancy (BP); during the first (DP1), second (DP2), and third trimesters (DP3); first trimester postpartum (PP1); and second trimester postpartum (PP2) were calculated. The Expanded Disability Status Scale (EDSS) was used to evaluate the degree of disability. Pregnancy outcomes were recorded and the children were followed up and their health condition was evaluated. RESULTS: In the group taking prednisone alone or in combination with azathioprine as immunosuppressive therapies, there was no difference among ARRs of each period (DP1, DP2, DP3, PP1, PP2) and BP. Compared with EDSS BP, EDSS increased slightly 6months postpartum with no statistical significance (p=0.102). In the group without immunosuppressive therapy, ARR increased during PP1 (p=0.014) and EDSS increased 6months postpartum as compared to BP (p=0.017). Moreover, the added EDSS value was higher in the group without immunosuppressive therapy than in the group with therapy (p=0.038). In 22 pregnancies from 16 patients, 16 pregnancies ended in live births and 6 pregnancies ended in abortions, including 2 spontaneous and 4 induced abortions. None of the children had congenital diseases or malformations. There were no records of abnormal growth among the children during 6months to 12years of follow-up. CONCLUSION: Untreated women showed a propensity for disease relapse in PP1 and increased degree of disability postpartum. Immunosuppressive therapy during pregnancy and postpartum period can reduce the risk of relapse and degree of disability. Immunosuppressive therapy with low-dose prednisone was relatively safe. However, the safety of azathioprine during pregnancy remains unclear and needs future reevaluation.

Axial MR diffusion tensor imaging and tractography in clinical diagnosed and pathology confirmed cervical spinal cord astrocytoma.

OBJECTIVE: To evaluate the diffusion tensor imaging (DTI) and diffusion tensor tractography (DTT) features of cervical spinal cord astrocytoma. METHODS: Eleven patients with cervical spinal cord astrocytomas and 10 healthy volunteers were recruited in this study. Conventional magnetic resonance imaging (MRI) and axial DTI were performed on a 3.0T MRI system. Apparent diffusion coefficient (ADC), fractional anisotropy (FA), axial diffusivity (AD), and radial diffusivity (RD) values for the lesions were measured. DTT was performed using the principal diffusion direction method. RESULTS: ADC values of the lesions and the normal-appearing tissue around the tumour (NATAT) on T2-weighted imaging (T2WI) increased. The ADC values of the lesions were higher. The FA values of the lesions and the NATAT decreased significantly, with the lesions having lower FA values. The RD value (1.36±0.49) of the tumours was significantly higher than those found in the healthy controls, but similar for the AD value (1.84±0.56). There were no differences in ADC or FA values between lesions and NATAT in McCormick Type I vs. Type II patients. Based on the DTT, 7 patients with solid mass tumours were classified as Type I. One patient with a solid mass, 2 patients with cystic degeneration inside the lesions, and 1 patient with a cyst around the mass were classified as Type II. CONCLUSIONS: FA values of the cervical spinal cord astrocytoma decreased, but the ADC values increased. DTI was sensitive for the evaluation of pathological changes that could not be visualized on T2WI. Our preliminary study indicates that DTT can be used to guide operation planning, and that axial images of DTT may be more valuable.

Depression and anxiety behaviour in a rat model of chronic migraine.

BACKGROUND: Epidemiological and clinical studies have demonstrated comorbidity between migraine and affective disorders. However, it is unclear whether chronic migraine can lead to affective disorders in other animals. METHODS: A classical chronic migraine rat model (repeated dura mater inflammatory soup [IS] infusion) was used to evaluate depression and anxiety behaviour via weight, sucrose preference test, open field test and elevated plus maze test. RESULTS: We found that sucrose preference, locomotor and rearing behaviours, inner zoon distance percent, open-arm entries percent and serotonin and dopamine levels in the prefrontal cortex decreased significantly in the IS group compared with those in the control group; co-administration of low-dose amitriptyline ameliorated these deficits. However, no differences in weight, inner zone time percent, or open-arm time percent between the IS and control groups. These results were used to create new depression and anxiety scales to comprehensively assess and evaluate the degree of affective disorders in rats. Most of chronic migraine animals showed depression and anxiety like behaviors but a few didn't. CONCLUSIONS: Most of the chronic migraine rats were present depression and anxiety like behaviors. The new scales we created are expected to use in the future studies to find out the potential mechanism of affective disorders' comorbidity.

A two-year follow-up study of cotransplantation with neural stem/progenitor cells and mesenchymal stromal cells in ischemic stroke patients.

Stem cell therapy is an emerging therapeutic modality in the treatment of stroke. We assessed the safety and feasibility of the cotransplantation of neural stem/progenitor cells (NSPCs) and mesenchymal stromal cells (MSCs) in patients with ischemic stroke. Eight patients were enrolled in this study. All patients had a hemisphere with infarct lesions located on one side of the territories of the cerebral middle or anterior arteries as revealed with cranial magnetic resonance imaging (MRI). The patients received one of the following two types of treatment: the first treatment involved four intravenous injections of MSCs at 0.5 × 10(6)/kg body weight; the second treatment involved one intravenous injection of MSCs at 0.5 × 10(6)/kg weight followed by three injections of MSCs at 5 × 10(6)/patient and NSPCs at 6 × 10(6)/patient through the cerebellomedullary cistern. The patients' clinical statuses were evaluated with the National Institutes of Health Stroke Scale (NIHSS), the modified Rankin Scale (mRS), and the Barthel index (BI). Six patients were given four cell transplantations. The most common side effect of stem cell transplantation in these six cases was low fever that usually lasted 2-4 days after each therapy. One patient exhibited minor dizziness. All side effects appeared within the first 2-24 h of cell transplantation, and they resolved without special treatment. There was no evidence of neurological deterioration or neurological infection. Most importantly, no tumorigenesis was found at a 2-year follow-up. The neurological functions, disability levels, and daily living abilities of the patients in this study were improved. While these observations support the use of the combination transplantation of NSPCs and MSCs as a safe and feasible method of improving neurological function, further studies that include larger samples, longer follow-ups, and control groups are still needed. This manuscript is published as part of the International Association of Neurorestoratology (IANR) special issue of Cell Transplantation.

Arachnoid involved in idiopathic hypertrophic pachymeningitis.

The cerebrospinal fluid (CSF) shows inflammatory changes in patients with idiopathic hypertrophic pachymeningitis (IHP), which is a rare disorder. However, systemic CSF research including immunoglobulins in patients with IHP are substantially lacking. In the study, clinical, laboratory, neuroradiologic and therapeutic data from 9 patients with IHP were retrospectively studied, and CSF changes were analyzed. Intracranial pressure was elevated in 4 patients. Protein levels in CSF were elevated in 5 patients (< 1g/L). IgA was elevated in 7 patients (> 0.5mg/dL), IgG was elevated in 8 patients (> 3.4 mg/dL) and IgM was elevated in 6 patients (>0.13 mg/dL) with IHP. CSF immunoglobulins, including IgA, IgG and IgM, were significantly elevated compared with levels in the control (P = 0.021, 0.018, 0.019). There were no linear correlations between IgG, IgM and protein in CSF, but there was a linear correlation between IgA and protein. In conclusion, CSF in IHP shows inflammatory changes, and protein levels are low to moderately elevated. CSF immunoglobulins, including IgA, IgG and IgM, also increased. The arachnoid is involved in IHP, a proportion of immunoglobulins may originate from the blood because of damage to the blood-CSF barrier at the arachnoid. Other intrathecal synthesis of immunoglobulins may be a secondary change due to alteration in the CSF's content to stabilize the internal environment or may be secreted by activated immune memory cells in the brain, which need further research.

Olanzapine-induced restless legs syndrome.

Only nine patients with olanzapine-induced restless legs syndrome (RLS) have been reported in the literature to our knowledge. We describe two patients with olanzapine-induced RLS treated at our hospital and review the nine reported patients. There were five women and six men aged between 28 and 62 years in the overall group. RLS symptoms emerged at olanzapine doses between 2.5 and 20mg. The symptoms improved in all patients when the dose was reduced and immediately disappeared when the medication was stopped. International Restless Legs Scale (IRLS) scores ranged from 10 to 35. Three patients had a family history of idiopathic RLS. Supplemental drugs were administered to control RLS symptoms in five patients. Ropinirole was effective in one patient, while two patients did not respond to the drug. Propoxyphene effectively relieved symptoms in one patient who did not respond to ropinirole or clonazepam. RLS symptoms did not recur following substitution of other antipsychotic drugs for olanzapine. In conclusion, olanzapine can induce RLS, particularly in patients with a family history of idiopathic RLS. More than half of the patients experienced severe to very severe symptoms. A dose-dependent relationship was observed between olanzapine and RLS symptoms. A gradual increase in dose may prevent olanzapine-induced RLS. The optimal treatment for olanzapine-induced RLS is discontinuation of olanzapine.

Idiopathic hypertrophic pachymeningitis: clinical, laboratory and neuroradiologic features in China.

Hypertrophic pachymeningitis is a rare chronic inflammatory disorder characterized by marked fibrous thickening of the cerebral and/or spinal dura mater. Clinical, laboratory, neuroradiologic and therapeutic data from 12 patients with idiopathic hypertrophic pachymeningitis (IHP) from our department were retrospectively studied. There were four men and eight women with a mean age of 49±15.3 years, and more than half of the patients (58%) were aged 40-60 years. Headache was the most common symptom, occurring in 92% of patients. Headache improved markedly and rapidly after glucocorticoid treatment. Optic nerve involvement was noted in seven patients (58%). C-reactive protein levels increased in 80% and the erythrocyte sedimentation rate increased in 71% of patients. Three patients were positive for autoantibodies, including antinuclear antibodies (ANA), perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA), anti-cardiolipin antibodies (ACA) and rheumatoid factor (RF). Cerebrospinal fluid showed inflammatory changes, and protein levels were low to moderately elevated. MRI revealed a thickened dura in all patients, and five patients (42%) were diagnosed with sinus stenosis/occlusion. IHP is a chronic inflammatory disorder of the dura with three groups of symptoms, namely headache, cranial nerve palsy and symptoms due to sinus stenosis/occlusion. However, IHP has different features in China in that it predominantly affects women and the age of onset is younger. Sinus stenosis/occlusion is relatively common in IHP patients in China.