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Scientific Data Jul 2024Patients with congenital heart disease often have cardiac anatomy that deviates significantly from normal, frequently requiring multiple heart surgeries. Image...
Patients with congenital heart disease often have cardiac anatomy that deviates significantly from normal, frequently requiring multiple heart surgeries. Image segmentation from a preoperative cardiovascular magnetic resonance (CMR) scan would enable creation of patient-specific 3D surface models of the heart, which have potential to improve surgical planning, enable surgical simulation, and allow automatic computation of quantitative metrics of heart function. However, there is no publicly available CMR dataset for whole-heart segmentation in patients with congenital heart disease. Here, we release the HVSMR-2.0 dataset, comprising 60 CMR scans alongside manual segmentation masks of the 4 cardiac chambers and 4 great vessels. The images showcase a wide range of heart defects and prior surgical interventions. The dataset also includes masks of required and optional extents of the great vessels, enabling fairer comparisons across algorithms. Detailed diagnoses for each subject are also provided. By releasing HVSMR-2.0, we aim to encourage development of robust segmentation algorithms and clinically relevant tools for congenital heart disease.
Topics: Humans; Heart Defects, Congenital; Magnetic Resonance Imaging; Heart; Imaging, Three-Dimensional; Algorithms
PubMed: 38956063
DOI: 10.1038/s41597-024-03469-9 -
Journal of Imaging Informatics in... Jul 2024Abnormalities in adrenal gland size may be associated with various diseases. Monitoring the volume of adrenal gland can provide a quantitative imaging indicator for such...
Abnormalities in adrenal gland size may be associated with various diseases. Monitoring the volume of adrenal gland can provide a quantitative imaging indicator for such conditions as adrenal hyperplasia, adrenal adenoma, and adrenal cortical adenocarcinoma. However, current adrenal gland segmentation models have notable limitations in sample selection and imaging parameters, particularly the need for more training on low-dose imaging parameters, which limits the generalization ability of the models, restricting their widespread application in routine clinical practice. We developed a fully automated adrenal gland volume quantification and visualization tool based on the no new U-Net (nnU-Net) for the automatic segmentation of deep learning models to address these issues. We established this tool by using a large dataset with multiple parameters, machine types, radiation doses, slice thicknesses, scanning modes, phases, and adrenal gland morphologies to achieve high accuracy and broad adaptability. The tool can meet clinical needs such as screening, monitoring, and preoperative visualization assistance for adrenal gland diseases. Experimental results demonstrate that our model achieves an overall dice coefficient of 0.88 on all images and 0.87 on low-dose CT scans. Compared to other deep learning models and nnU-Net model tools, our model exhibits higher accuracy and broader adaptability in adrenal gland segmentation.
PubMed: 38955963
DOI: 10.1007/s10278-024-01158-y -
Documenta Ophthalmologica. Advances in... Jul 2024Multiple sclerosis (MS) is a neuro-inflammatory disease affecting the central nervous system (CNS), where the immune system targets and damages the protective myelin...
PURPOSE
Multiple sclerosis (MS) is a neuro-inflammatory disease affecting the central nervous system (CNS), where the immune system targets and damages the protective myelin sheath surrounding nerve fibers, inhibiting axonal signal transmission. Demyelinating optic neuritis (ON), a common MS symptom, involves optic nerve damage. We've developed NeuroVEP, a portable, wireless diagnostic system that delivers visual stimuli through a smartphone in a headset and measures evoked potentials at the visual cortex from the scalp using custom electroencephalography electrodes.
METHODS
Subject vision is evaluated using a short 2.5-min full-field visual evoked potentials (ffVEP) test, followed by a 12.5-min multifocal VEP (mfVEP) test. The ffVEP evaluates the integrity of the visual pathway by analyzing the P100 component from each eye, while the mfVEP evaluates 36 individual regions of the visual field for abnormalities. Extensive signal processing, feature extraction methods, and machine learning algorithms were explored for analyzing the mfVEPs. Key metrics from patients' ffVEP results were statistically evaluated against data collected from a group of subjects with normal vision. Custom visual stimuli with simulated defects were used to validate the mfVEP results which yielded 91% accuracy of classification.
RESULTS
20 subjects, 10 controls and 10 with MS and/or ON were tested with the NeuroVEP device and a standard-of-care (SOC) VEP testing device which delivers only ffVEP stimuli. In 91% of the cases, the ffVEP results agreed between NeuroVEP and SOC device. Where available, the NeuroVEP mfVEP results were in good agreement with Humphrey Automated Perimetry visual field analysis. The lesion locations deduced from the mfVEP data were consistent with Magnetic Resonance Imaging and Optical Coherence Tomography findings.
CONCLUSION
This pilot study indicates that NeuroVEP has the potential to be a reliable, portable, and objective diagnostic device for electrophysiology and visual field analysis for neuro-visual disorders.
PubMed: 38955958
DOI: 10.1007/s10633-024-09980-z -
Neurocritical Care Jul 2024Viscoelastic hemostatic assays (VHAs) provide more comprehensive assessments of coagulation compared with conventional coagulation assays. Although VHAs have enabled...
BACKGROUND
Viscoelastic hemostatic assays (VHAs) provide more comprehensive assessments of coagulation compared with conventional coagulation assays. Although VHAs have enabled guided hemorrhage control therapies, improving clinical outcomes in life-threatening hemorrhage, the role of VHAs in intracerebral hemorrhage (ICH) is unclear. If VHAs can identify coagulation abnormalities relevant for ICH outcomes, this would support the need to investigate the role of VHAs in ICH treatment paradigms. Thus, we investigated whether VHA assessments of coagulation relate to long-term ICH outcomes.
METHODS
Patients with spontaneous ICH enrolled into a single-center cohort study receiving admission Rotational Thromboelastometry (ROTEM) VHA testing between 2013 and 2020 were assessed. Patients with previous anticoagulant use or coagulopathy on conventional coagulation assays were excluded. Primary ROTEM exposure variables were coagulation kinetics and clot strength assessments. Poor long-term outcome was defined as modified Rankin Scale ≥ 4 at 6 months. Logistic regression analyses assessed associations of ROTEM parameters with clinical outcomes after adjusting for ICH severity and hemoglobin concentration.
RESULTS
Of 44 patients analyzed, the mean age was 64 years, 57% were female, and the median ICH volume was 23 mL. Poor 6-month outcome was seen in 64% of patients. In our multivariable regression models, slower, prolonged coagulation kinetics (adjusted odds ratio for every second increase in clot formation time 1.04, 95% confidence interval 1.00-1.09, p = 0.04) and weaker clot strength (adjusted odds ratio for every millimeter increase of maximum clot firmness 0.84, 95% confidence interval 0.71-0.99, p = 0.03) were separately associated with poor long-term outcomes.
CONCLUSIONS
Slower, prolonged coagulation kinetics and weaker clot strength on admission VHA ROTEM testing, not attributable to anticoagulant use, were associated with poor long-term outcomes after ICH. Further work is needed to clarify the generalizability and the underlying mechanisms of these VHA findings to assess whether VHA-guided treatments should be incorporated into ICH care.
PubMed: 38955933
DOI: 10.1007/s12028-024-02051-w -
Tissue Engineering and Regenerative... Jul 2024Tissue clearing enables deep imaging in various tissues by increasing the transparency of tissues, but there were limitations of immunostaining of the large-volume...
BACKGROUND
Tissue clearing enables deep imaging in various tissues by increasing the transparency of tissues, but there were limitations of immunostaining of the large-volume tissues such as the whole brain.
METHODS
Here, we cleared and immune-stained whole mouse brain tissues using a novel clearing technique termed high-speed clearing and high-resolution staining (HCHS). We observed neural structures within the cleared brains using both a confocal microscope and a light-sheet fluorescence microscope (LSFM). The reconstructed 3D images were analyzed using a computational reconstruction algorithm.
RESULTS
Various neural structures were well observed in three-dimensional (3D) images of the cleared brains from Gad-green fluorescent protein (GFP) mice and Thy 1-yellow fluorescent protein (YFP) mice. The intrinsic fluorescence signals of both transgenic mice were preserved after HCHS. In addition, large-scale 3D imaging of brains, immune-stained by the HCHS method using a mild detergent-based solution, allowed for the global topological analysis of several neuronal markers such as c-Fos, neuronal nuclear protein (NeuN), Microtubule-associated protein 2 (Map2), Tuj1, glial fibrillary acidic protein (GFAP), and tyrosine hydroxylase (TH) in various anatomical regions in the whole mouse brain tissues. Finally, through comparisons with various existing tissue clearing methodologies such as CUBIC, Visikol, and 3DISCO, it was confirmed that the HCHS methodology results in relatively less tissue deformation and higher fluorescence retention.
CONCLUSION
In conclusion, the development of 3D imaging based on novel tissue-clearing techniques (HCHS) will enable detailed spatial analysis of neural and vascular networks present within the brain.
PubMed: 38955906
DOI: 10.1007/s13770-024-00658-w -
Metabolomics : Official Journal of the... Jul 2024Congenital heart disease (CHD) is the most common congenital anomaly, representing a significant global disease burden. Limitations exist in our understanding of... (Observational Study)
Observational Study
INTRODUCTION
Congenital heart disease (CHD) is the most common congenital anomaly, representing a significant global disease burden. Limitations exist in our understanding of aetiology, diagnostic methodology and screening, with metabolomics offering promise in addressing these.
OBJECTIVE
To evaluate maternal metabolomics and lipidomics in prediction and risk factor identification for childhood CHD.
METHODS
We performed an observational study in mothers of children with CHD following pregnancy, using untargeted plasma metabolomics and lipidomics by ultrahigh performance liquid chromatography-high resolution mass spectrometry (UHPLC-HRMS). 190 cases (157 mothers of children with structural CHD (sCHD); 33 mothers of children with genetic CHD (gCHD)) from the children OMACp cohort and 162 controls from the ALSPAC cohort were analysed. CHD diagnoses were stratified by severity and clinical classifications. Univariate, exploratory and supervised chemometric methods were used to identify metabolites and lipids distinguishing cases and controls, alongside predictive modelling.
RESULTS
499 metabolites and lipids were annotated and used to build PLS-DA and SO-CovSel-LDA predictive models to accurately distinguish sCHD and control groups. The best performing model had an sCHD test set mean accuracy of 94.74% (sCHD test group sensitivity 93.33%; specificity 96.00%) utilising only 11 analytes. Similar test performances were seen for gCHD. Across best performing models, 37 analytes contributed to performance including amino acids, lipids, and nucleotides.
CONCLUSIONS
Here, maternal metabolomic and lipidomic analysis has facilitated the development of sensitive risk prediction models classifying mothers of children with CHD. Metabolites and lipids identified offer promise for maternal risk factor profiling, and understanding of CHD pathogenesis in the future.
Topics: Humans; Heart Defects, Congenital; Female; Metabolomics; Mothers; Lipidomics; Adult; Child; Lipids; Chromatography, High Pressure Liquid; Metabolome; Male; Pregnancy; Mass Spectrometry
PubMed: 38955892
DOI: 10.1007/s11306-024-02129-8 -
European Spine Journal : Official... Jul 2024Spinal tuberculosis, if not promptly treated, can lead to kyphotic deformity, causing persistent neurological abnormalities and discomfort. Spinal cord compression can...
PURPOSE
Spinal tuberculosis, if not promptly treated, can lead to kyphotic deformity, causing persistent neurological abnormalities and discomfort. Spinal cord compression can occur due to ossification of the ligamentum flavum (OLF) at the apex of kyphosis. Traditional surgical interventions, including osteotomy and fixation, pose challenges and risks. We present a case of thoracic myelopathy in a patient with post-tuberculosis kyphosis, successfully treated with biportal endoscopic spinal surgery (BESS).
METHOD
A 73-year-old female with a history of untreated kyphosis presented with walking difficulties and lower limb pain. Imaging revealed a kyphotic deformity of 120° and OLF-induced cord compression at T8-9. UBE was performed under spinal anesthesia. Using the BESS technique, OLF was successfully removed with minimal damage to the stabilizing structures.
RESULTS
The patient exhibited neurological improvement after surgery, walking on the first day without gait instability. Follow-up at 1 year showed no kyphosis progression or recurrence of symptoms. BESS successfully resolved the cord compression lesion with minimal blood loss and damage.
CONCLUSION
In spinal tuberculosis-related OLF, conventional open surgery poses challenges. BESS emerges as an excellent alternative, providing effective decompression with reduced instrumentation needs, minimal blood loss, and preservation of surrounding structures. Careful patient selection and surgical planning are crucial for optimal outcomes in endoscopic procedures.
PubMed: 38955867
DOI: 10.1007/s00586-024-08308-4 -
European Spine Journal : Official... Jul 2024This study was a retrospective multi-center comparative cohort study.
STUDY DESIGN
This study was a retrospective multi-center comparative cohort study.
MATERIALS AND METHODS
A retrospective institutional database of operative adult spinal deformity patients was utilized. All fusions > 5 vertebral levels and including the sacrum/pelvis were eligible for inclusion. Revisions, 3 column osteotomies, and patients with < 2-year clinical follow-up were excluded. Patients were separated into 3 groups based on surgical approach: 1) posterior spinal fusion without interbody (PSF), 2) PSF with interbody (PSF-IB), and 3) anteroposterior (AP) fusion (anterior lumbar interbody fusion or lateral lumbar interbody fusion with posterior screw fixation). Intraoperative, radiographic, and clinical outcomes, as well as complications, were compared between groups with ANOVA and χ tests.
RESULTS
One-hundred and thirty-eight patients were included for study (PSF, n = 37; PSF-IB, n = 44; AP, n = 57). Intraoperatively, estimated blood loss was similar between groups (p = 0.171). However, the AP group had longer operative times (547.5 min) compared to PSF (385.1) and PSF-IB (370.7) (p < 0.001). Additionally, fusion length was shorter in PSF-IB (11.4) compared to AP (13.6) and PSF (12.9) (p = 0.004). There were no differences between the groups in terms of change in alignment from preoperative to 2 years postoperative. There were no differences in clinical outcomes. While postoperative complications were largely similar between groups, operative complications were higher in the AP group (31.6%) compared to the PSF (5.4%) and PSF-IB (9.1) groups (p < 0.001).
CONCLUSION
While there were differences in intraoperative outcomes (operative time and fusion length), there were no differences in postoperative clinical or radiographic outcomes. AP fusion was associated with a higher rate of operative complications.
PubMed: 38955866
DOI: 10.1007/s00586-024-08354-y -
Radiologie (Heidelberg, Germany) Jul 2024The role of radiology in the diagnosis of interstitial lung diseases (ILDs) has evolved over time, in part replacing histology. Radiology now represents a pillar of... (Review)
Review
BACKGROUND
The role of radiology in the diagnosis of interstitial lung diseases (ILDs) has evolved over time, in part replacing histology. Radiology now represents a pillar of diagnostics and monitoring in ILDs.
OBJECTIVE
To what extent does radiology influence diagnostics and treatment in ILDs?
MATERIALS AND METHODS
A literature review was conducted, and current findings were discussed in the context of clinical data.
RESULTS
Radiology plays a crucial role in the diagnosis of ILDs. Within the framework of the multidisciplinary conference, it provides specific CT patterns such as usual interstitial pneumonia (UIP), nonspecific interstitial pneumonia (NSIP), and organizing pneumonia (OP), or helps in identifying cystic lung diseases. Multicompartment diseases can be detected, and pulmonary hypertension or extrapulmonary involvement of the respective diseases can be suspected. Progressive pulmonary fibrosis requires radiologic assessment as one of the required criteria. Interstitial lung abnormalities are usually detected by radiological studies performed for an unrelated indication.
CONCLUSION
Radiology plays an important role within the multidisciplinary conference to determine both diagnosis and treatment with antifibrotic or anti-inflammatory drugs, or a combination of both.
PubMed: 38955843
DOI: 10.1007/s00117-024-01340-x -
Journal of Neurology Jul 2024Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically inherited myopathies in adults. It is characterized by incomplete penetrance and... (Review)
Review
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically inherited myopathies in adults. It is characterized by incomplete penetrance and variable expressivity. Typically, FSHD patients display asymmetric weakness of facial, scapular, and humeral muscles that may progress to other muscle groups, particularly the abdominal and lower limb muscles. Early-onset patients display more severe muscle weakness and atrophy, resulting in a higher frequency of associated skeletal abnormalities. In these patients, multisystem involvement, including respiratory, ocular, and auditory, is more frequent and severe and may include the central nervous system. Adult-onset FSHD patients may also display some degree of multisystem involvement which mainly remains subclinical. In 95% of cases, FSHD patients carry a pathogenic contraction of the D4Z4 repeat units (RUs) in the subtelomeric region of chromosome 4 (4q35), which leads to the expression of DUX4 retrogene, toxic for muscles (FSHD1). Five percent of patients display the same clinical phenotype in association with a mutation in the SMCHD1 gene located in chromosome 18, inducing epigenetic modifications of the 4q D4Z4 repeated region and expression of DUX4 retrogene. This review highlights the complexities and challenges of diagnosing and managing FSHD, underscoring the importance of standardized approaches for optimal patient outcomes. It emphasizes the critical role of multidisciplinary care in addressing the diverse manifestations of FSHD across different age groups, from skeletal abnormalities in early-onset cases to the often-subclinical multisystem involvement in adults. With no current cure, the focus on alleviating symptoms and slowing disease progression through coordinated care is paramount.
PubMed: 38955828
DOI: 10.1007/s00415-024-12538-3