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Cureus Apr 2024Cryoglobulinemia may result in small-to-medium vessel vasculitis. Central nervous system (CNS) involvement is rare, and presentation may range from stroke/transient...
Cryoglobulinemia may result in small-to-medium vessel vasculitis. Central nervous system (CNS) involvement is rare, and presentation may range from stroke/transient ischemic attack, reversible ischemic neurological deficits, to encephalopathic syndromes. This is a rare case discussing cryoglobulinemia with CNS involvement. A 56-year-old female with a history of cryoglobulinemia was found unresponsive to verbal and physical stimuli. She was admitted to the intensive care unit. CT head without contrast showed diffuse cerebral edema and mass effect in the right cerebral hemisphere causing right to left midline shift, brainstem infarct, hemorrhage in the right lateral ventricle, and obstruction of the fourth ventricle. The patient was managed with hypertonic saline, external ventricular drain (EVD) placement, and high-dose steroids, which led to an improvement in her condition. In conclusion, testing for cryoglobulins and serologic tests for hepatitis C should be considered in syndromes of cerebral ischemia or infarction without an obvious cause, especially in young individuals since encephalopathy may be reversible. Cryoglobulinemia with CNS manifestations may be associated with purpura, high RF, and low C4. The treatment can be a combination of steroids, immunosuppressants, plasmapheresis, and rituximab. Cyclophosphamide may also be considered as adjunctive therapy to corticosteroids in rapidly progressive severe neurological complications. Further research for treatment standards in nonviral cryoglobulinemia is needed.
PubMed: 38752092
DOI: 10.7759/cureus.58259 -
Journal of Investigative Medicine High... 2024Primary cardiac lymphoma is an exceedingly rare malignant tumor, with diffuse large B-cell lymphoma (DLBCL) being the most prevalent histological subtype. This disease...
Primary cardiac lymphoma is an exceedingly rare malignant tumor, with diffuse large B-cell lymphoma (DLBCL) being the most prevalent histological subtype. This disease has non-specific clinical manifestations, making early diagnosis crucial. However, DLBCL diagnosis is commonly delayed, and its prognosis is typically poor. Herein, we report the case of a 51-year-old male patient with DLBCL who presented with recurrent chest tightness for 4 months as the primary clinical symptom. The patient was admitted to the hospital and diagnosed with acute myocardial infarction and left ventricular hypertrophy with heart failure. Echocardiography revealed a progression from left ventricular thickening to local pericardial thickening and adhesion in the inferior and lateral walls of the left ventricle. Finally, pathological analysis of myocardial biopsy confirmed the diagnosis of DLBCL. After treatment with the R-CHOP chemotherapy regimen, the patient's chest tightness improved, and he was discharged. After 2 months, the patient succumbed to death owing to sudden ventricular tachycardia, ventricular fibrillation, and decreased blood pressure despite rescue efforts. Transthoracic echocardiography is inevitable for the early diagnosis of DLBCL, as it can narrow the differential and guide further investigations and interventions, thereby improving the survival of these patients.
Topics: Humans; Lymphoma, Large B-Cell, Diffuse; Male; Middle Aged; Heart Neoplasms; Myocardial Infarction; Echocardiography; Fatal Outcome; Antineoplastic Combined Chemotherapy Protocols; Hypertrophy, Left Ventricular; Vincristine; Doxorubicin; Rituximab; Cyclophosphamide; Prednisone
PubMed: 38747509
DOI: 10.1177/23247096241253334 -
MedRxiv : the Preprint Server For... May 2024Although enlargement of the lateral ventricles was previously observed in individuals with mood disorders, the link between ventricular size and asymmetry with other...
BACKGROUND
Although enlargement of the lateral ventricles was previously observed in individuals with mood disorders, the link between ventricular size and asymmetry with other indices of brain structure remains underexplored. In this study, we examined the association of lateral ventricular size and asymmetry with cortical myelin content in individuals with bipolar (BD) and depressive (DD) disorders compared to healthy controls (HC).
METHODS
Magnetic resonance imaging (MRI) was used to obtain T1w and T2w images from 149 individuals (age=27.7 (SD=6.1) years, 78% female, BD=38, DD=57, HC=54). Cortical myelin content was calculated using the T1w/T2w ratio. Elastic net regularized regression identified brain regions whose myelin content was associated with ventricular size and asymmetry. A post-hoc linear regression examined how participants' diagnosis, illness duration, and current level of depression moderated the relationship between the size and asymmetry of the lateral ventricles and levels of cortical myelin in the selected brain regions.
RESULTS
Individuals with mood disorders had larger lateral ventricles than HC. Larger ventricles and lower asymmetry were observed in individuals with BD who had longer lifetime illness duration and more severe current depressive symptoms. A greater left asymmetry was observed in participants with DD than in those with BD (p<0.01). Elastic net revealed that both ventricular enlargement and asymmetry were associated with altered myelin content in cingulate, frontal, and sensorimotor cortices. In BD, but not other groups, ventricular enlargement was related to altered myelin content in the right insular regions.
CONCLUSIONS
Lateral ventricular enlargement and asymmetry are linked to myelin content imbalance, thus, potentially leading to emotional and cognitive dysfunction in mood disorders.
PubMed: 38746112
DOI: 10.1101/2024.04.30.24306621 -
Frontiers in Molecular Neuroscience 2024In the early cerebellar primordium, there are two progenitor zones, the ventricular zone (VZ) residing atop the IVth ventricle and the rhombic lip (RL) at the lateral...
In the early cerebellar primordium, there are two progenitor zones, the ventricular zone (VZ) residing atop the IVth ventricle and the rhombic lip (RL) at the lateral edges of the developing cerebellum. These zones give rise to the several cell types that form the GABAergic and glutamatergic populations of the adult cerebellum, respectively. Recently, an understanding of the molecular compartmentation of these zones has emerged. To add to this knowledge base, we report on the genes, a family of three transcription factors, that are expressed downstream of Bone Morphogenetic Protein (BMP) signaling in these zones. Using fluorescent RNA hybridization, we have characterized the (Msh Homeobox) genes and demonstrated that their spatiotemporal pattern segregates specific regions within the progenitor zones. and are compartmentalized within the rhombic lip (RL), while is localized within the ventricular zone (VZ). The relationship of the genes with an early marker of the glutamatergic lineage, , was examined in -null mice and it was found that the expression of genes persisted. Importantly, the spatial expression of and altered in response to the elimination of . These results point to the Msx genes as novel early markers of cerebellar progenitor zones and more importantly to an updated view of the molecular parcellation of the RL with respect to the canonical marker of the RL, .
PubMed: 38742226
DOI: 10.3389/fnmol.2024.1356544 -
Surgical Neurology International 2024Solitary fibrous tumor/meningeal hemangiopericytoma (SFT/M-HPC) is a rare neoplasm which accounts for around 1% of the intracranial masses. This pathology has a high...
BACKGROUND
Solitary fibrous tumor/meningeal hemangiopericytoma (SFT/M-HPC) is a rare neoplasm which accounts for around 1% of the intracranial masses. This pathology has a high risk for recurrence and metastasis to distant locations such as the liver, lungs, and bones. Precise diagnosis necessitates detailed histopathological examination.
CASE DESCRIPTION
We present two case reports of SFT/M-HPC. The first case is a 44-year-old female who presented with headache, nausea, vomiting, and frontal ataxia for several months. Imaging findings showed a large parasagittal extra-axial mass with compression of the frontal horns of both lateral ventricles. She underwent gross total resection with an uncomplicated postoperative period. The patient had no recurrent tumors or distal metastases in the follow-up period of 5 years. The second case is a 48-year-old male who presented with right-sided hemianopsia and hemiparesis. Computed tomography (CT) scans revealed a large parieto-occipital extra-axial mass with superior sagittal sinus engulfment and dislocation of the interhemispheric fissure. He underwent gross total resection with an uncomplicated postoperative period. Six years later, he presented with right-sided weakness. CT scan showed a multifocal recurrent mass at the previous location. He underwent subtotal resection with an uncomplicated postoperative period.
CONCLUSION
SFT/M-HPC should be considered when presented with a meningioma-like tumor mass on preoperative imaging. Immunohistochemical study is crucial for the correct diagnosis. Strict long-term follow-up examinations and regular magnetic resonance imaging scans are key to preventing the appearance of metastases and large recurrent masses.
PubMed: 38741978
DOI: 10.25259/SNI_42_2024 -
Biomedical Engineering Online May 2024Integration of a patient's non-invasive imaging data in a digital twin (DT) of the heart can provide valuable insight into the myocardial disease substrates underlying...
BACKGROUND
Integration of a patient's non-invasive imaging data in a digital twin (DT) of the heart can provide valuable insight into the myocardial disease substrates underlying left ventricular (LV) mechanical discoordination. However, when generating a DT, model parameters should be identifiable to obtain robust parameter estimations. In this study, we used the CircAdapt model of the human heart and circulation to find a subset of parameters which were identifiable from LV cavity volume and regional strain measurements of patients with different substrates of left bundle branch block (LBBB) and myocardial infarction (MI). To this end, we included seven patients with heart failure with reduced ejection fraction (HFrEF) and LBBB (study ID: 2018-0863, registration date: 2019-10-07), of which four were non-ischemic (LBBB-only) and three had previous MI (LBBB-MI), and six narrow QRS patients with MI (MI-only) (study ID: NL45241.041.13, registration date: 2013-11-12). Morris screening method (MSM) was applied first to find parameters which were important for LV volume, regional strain, and strain rate indices. Second, this parameter subset was iteratively reduced based on parameter identifiability and reproducibility. Parameter identifiability was based on the diaphony calculated from quasi-Monte Carlo simulations and reproducibility was based on the intraclass correlation coefficient ( ) obtained from repeated parameter estimation using dynamic multi-swarm particle swarm optimization. Goodness-of-fit was defined as the mean squared error ( ) of LV myocardial strain, strain rate, and cavity volume.
RESULTS
A subset of 270 parameters remained after MSM which produced high-quality DTs of all patients ( < 1.6), but minimum parameter reproducibility was poor ( = 0.01). Iterative reduction yielded a reproducible ( = 0.83) subset of 75 parameters, including cardiac output, global LV activation duration, regional mechanical activation delay, and regional LV myocardial constitutive properties. This reduced subset produced patient-resembling DTs ( < 2.2), while septal-to-lateral wall workload imbalance was higher for the LBBB-only DTs than for the MI-only DTs (p < 0.05).
CONCLUSIONS
By applying sensitivity and identifiability analysis, we successfully determined a parameter subset of the CircAdapt model which can be used to generate imaging-based DTs of patients with LV mechanical discoordination. Parameters were reproducibly estimated using particle swarm optimization, and derived LV myocardial work distribution was representative for the patient's underlying disease substrate. This DT technology enables patient-specific substrate characterization and can potentially be used to support clinical decision making.
Topics: Humans; Heart Ventricles; Image Processing, Computer-Assisted; Bundle-Branch Block; Biomechanical Phenomena; Myocardial Infarction; Mechanical Phenomena; Male; Female; Middle Aged; Models, Cardiovascular
PubMed: 38741182
DOI: 10.1186/s12938-024-01232-0 -
AJNR. American Journal of Neuroradiology May 2024Early neurologic deterioration (END) often occurs during hospitalization in single small subcortical infarction (SSSI). The objective was to identify imaging predictors...
BACKGROUND AND PURPOSE
Early neurologic deterioration (END) often occurs during hospitalization in single small subcortical infarction (SSSI). The objective was to identify imaging predictors of END.
MATERIALS AND METHODS
SSSIs in the lenticulostriate artery within 72 hours of stroke onset from January 2015 to June 2021 were consecutively enrolled. The posteriority and laterality indexes were assessed on the second section from the top of the corona radiata section showing the lateral ventricle on DWI. A multivariate logistic analysis was used to explore the predictors of END.
RESULTS
A total of 402 patients were included in this study, among whom 93 (23.1%) experienced END. The optimal cutoff points of the posteriority and laterality indexes for predicting END were given by a receiver operating characteristic curve. A multivariate logistic analysis showed that the posteriority index of ≥0.669 (OR: 2.53; 95% CI: 1.41-4.56; = .002) and the laterality index of ≥0.950 (OR: 2.03; 95% CI: 1.03-4.00; = .042) were independently associated with the risk of END. Accordingly, the SSSIs were further divided into 4 types: anterior lateral type (AL-type), anterior medial type (AM-type), posterior lateral type (PL-type), and posterior medial type (PM-type). After the multivariate analysis, in comparison with the AL-type, the AM-type (OR: 3.26; 95% CI: 1.10-9.65), PL-type (OR: 4.68; 95% CI: 1.41-15.56), and PM-type (OR: 6.77; 95% CI: 2.53-18.04) carried significantly elevated risks of END. The PM-type was associated with the highest risk of END.
CONCLUSIONS
The PM-type was found to be associated with the highest risk of END.
Topics: Humans; Male; Female; Middle Aged; Aged; Cerebral Infarction; Diffusion Magnetic Resonance Imaging; Retrospective Studies; Basal Ganglia Cerebrovascular Disease
PubMed: 38724189
DOI: 10.3174/ajnr.A8176 -
Disease Models & Mechanisms Apr 2024Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, resulting in the loss of dystrophin, a large cytosolic protein that links the cytoskeleton to...
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, resulting in the loss of dystrophin, a large cytosolic protein that links the cytoskeleton to extracellular matrix receptors in skeletal muscle. Aside from progressive muscle damage, many patients with DMD also have neurological deficits of unknown etiology. To investigate potential mechanisms for DMD neurological deficits, we assessed postnatal oligodendrogenesis and myelination in the Dmdmdx mouse model. In the ventricular-subventricular zone (V-SVZ) stem cell niche, we found that oligodendrocyte progenitor cell (OPC) production was deficient, with reduced OPC densities and proliferation, despite a normal stem cell niche organization. In the Dmdmdx corpus callosum, a large white matter tract adjacent to the V-SVZ, we also observed reduced OPC proliferation and fewer oligodendrocytes. Transmission electron microscopy further revealed significantly thinner myelin, an increased number of abnormal myelin structures and delayed myelin compaction, with hypomyelination persisting into adulthood. Our findings reveal alterations in oligodendrocyte development and myelination that support the hypothesis that changes in diffusion tensor imaging seen in patients with DMD reflect developmental changes in myelin architecture.
Topics: Animals; Myelin Sheath; Oligodendroglia; Muscular Dystrophy, Duchenne; Mice, Inbred mdx; Cell Proliferation; Dystrophin; Corpus Callosum; Mice, Inbred C57BL; Mice; Oligodendrocyte Precursor Cells; Lateral Ventricles; Disease Models, Animal; Cell Differentiation; Male
PubMed: 38721692
DOI: 10.1242/dmm.050115 -
NeuroImage. Clinical Apr 2024Prior research has established a link between thalamic pathology and cognitive impairment (CI) in people with multiple sclerosis (pwMS). However, the translation of...
Thalamic atrophy and dysconnectivity are associated with cognitive impairment in a multi-center, clinical routine, real-word study of people with relapsing-remitting multiple sclerosis.
BACKGROUND
Prior research has established a link between thalamic pathology and cognitive impairment (CI) in people with multiple sclerosis (pwMS). However, the translation of these findings to pwMS in everyday clinical settings has been insufficient.
OBJECTIVE
To assess which global and/or thalamic imaging biomarkers can be used to identify pwMS at risk for CI and cognitive worsening (CW) in a real-world setting.
METHODS
This was an international, multi-center (11 centers), longitudinal, retrospective, real-word study of people with relapsing-remitting MS (pwRRMS). Brain MRI exams acquired at baseline and follow-up were collected. Cognitive status was evaluated using the Symbol Digit Modalities Test (SDMT). Thalamic volume (TV) measurement was performed on T2-FLAIR, as well as on T1-WI, when available. Thalamic dysconnectivity, T2-lesion volume (T2-LV), and volumes of gray matter (GM), whole brain (WB) and lateral ventricles (LVV) were also assessed.
RESULTS
332 pwMS were followed for an average of 2.8 years. At baseline, T2-LV, LVV, TV and thalamic dysconnectivity on T2-FLAIR (p < 0.016), and WB, GM and TV volumes on T1-WI (p < 0.039) were significantly worse in 90 (27.1 %) CI vs. 242 (62.9 %) non-CI pwRRMS. Greater SDMT decline over the follow-up was associated with lower baseline TV on T2-FLAIR (standardized β = 0.203, p = 0.002) and greater thalamic dysconnectivity (standardized β = -0.14, p = 0.028) in a linear regression model.
CONCLUSIONS
PwRRMS with thalamic atrophy and worse thalamic dysconnectivity present more frequently with CI and experience greater CW over mid-term follow-up in a real-world setting.
PubMed: 38718640
DOI: 10.1016/j.nicl.2024.103609 -
PLoS Biology May 2024Autism spectrum disorders (ASD) frequently accompany macrocephaly, which often involves hydrocephalic enlargement of brain ventricles. Katnal2 is a...
Autism spectrum disorders (ASD) frequently accompany macrocephaly, which often involves hydrocephalic enlargement of brain ventricles. Katnal2 is a microtubule-regulatory protein strongly linked to ASD, but it remains unclear whether Katnal2 knockout (KO) in mice leads to microtubule- and ASD-related molecular, synaptic, brain, and behavioral phenotypes. We found that Katnal2-KO mice display ASD-like social communication deficits and age-dependent progressive ventricular enlargements. The latter involves increased length and beating frequency of motile cilia on ependymal cells lining ventricles. Katnal2-KO hippocampal neurons surrounded by enlarged lateral ventricles show progressive synaptic deficits that correlate with ASD-like transcriptomic changes involving synaptic gene down-regulation. Importantly, early postnatal Katnal2 re-expression prevents ciliary, ventricular, and behavioral phenotypes in Katnal2-KO adults, suggesting a causal relationship and a potential treatment. Therefore, Katnal2 negatively regulates ependymal ciliary function and its deletion in mice leads to ependymal ciliary hyperfunction and hydrocephalus accompanying ASD-related behavioral, synaptic, and transcriptomic changes.
PubMed: 38718086
DOI: 10.1371/journal.pbio.3002596