46 research outputs found
Are Deep Learning Classification Results Obtained on CT Scans Fair and Interpretable?
Following the great success of various deep learning methods in image and
object classification, the biomedical image processing society is also
overwhelmed with their applications to various automatic diagnosis cases.
Unfortunately, most of the deep learning-based classification attempts in the
literature solely focus on the aim of extreme accuracy scores, without
considering interpretability, or patient-wise separation of training and test
data. For example, most lung nodule classification papers using deep learning
randomly shuffle data and split it into training, validation, and test sets,
causing certain images from the CT scan of a person to be in the training set,
while other images of the exact same person to be in the validation or testing
image sets. This can result in reporting misleading accuracy rates and the
learning of irrelevant features, ultimately reducing the real-life usability of
these models. When the deep neural networks trained on the traditional, unfair
data shuffling method are challenged with new patient images, it is observed
that the trained models perform poorly. In contrast, deep neural networks
trained with strict patient-level separation maintain their accuracy rates even
when new patient images are tested. Heat-map visualizations of the activations
of the deep neural networks trained with strict patient-level separation
indicate a higher degree of focus on the relevant nodules. We argue that the
research question posed in the title has a positive answer only if the deep
neural networks are trained with images of patients that are strictly isolated
from the validation and testing patient sets.Comment: This version has been submitted to CAAI Transactions on Intelligence
Technology. 202
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. We discover two previously unreported loci, NFKB1 (rs230540, OR = 1.25, P = 3.4 × 10-12) and IRF4 (rs9405192, OR = 1.29, P = 1.4 × 10-14), fine-map the PLA2R1 locus (rs17831251, OR = 2.25, P = 4.7 × 10-103) and report ancestry-specific effects of three classical HLA alleles: DRB1*1501 in East Asians (OR = 3.81, P = 2.0 × 10-49), DQA1*0501 in Europeans (OR = 2.88, P = 5.7 × 10-93), and DRB1*0301 in both ethnicities (OR = 3.50, P = 9.2 × 10-23 and OR = 3.39, P = 5.2 × 10-82, respectively). GWAS loci explain 32% of disease risk in East Asians and 25% in Europeans, and correctly re-classify 20-37% of the cases in validation cohorts that are antibody-negative by the serum anti-PLA2R ELISA diagnostic test. Our findings highlight an unusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-third of the disease risk
Preparation of Yttria-Stabilized Zirconia by the Reverse Microemulsion Method and the Effect of Sc and Ce Doping on Microstructure and Ionic Conductivity for Solid Oxide Fuel Cell Applications
In this study, 8 mol% yttria-stabilized zirconia (8YSZ), ceria-, and scandia-doped YSZ powders were synthesized by the reverse microemulsion method. The powders were calcined at 1000 degrees C and sintered at 1450 degrees C. The crystalline properties and microstructure of the samples were characterized by X-ray diffraction and SEM methods, respectively. Oxygen ionic conductivities of the samples were measured by electrochemical impedance spectroscopy in the temperature range 250-375 degrees C. Grain interior and grain boundary resistivities were also calculated. Particle sizes of YSZ and Sc-doped YSZ were found to be < 100 nm, while that of Ce-doped YSZ was 120-150 nm. Approximately 1 mu m grains were observed after sintering of YSZ at 1450 degrees C. Particularly, the grain boundary and also the grain interior resistivities decreased with 3% scandia-doped YSZ. It was observed that the total conductivity of 3YSZ was higher than that of 3% ceria-doped YSZ
Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping
Warburg micro syndrome (WARBM) is a rare autosomal recessive disorder characterized by microcephaly, cortical dysplasia, intellectual disability, ocular abnormalities, spastic diplegia, and microgenitalia. WARBM has 4 subtypes arising from pathogenic variants in 4 genes (RAB18,RAB3GAP1,RAB3GAP2, andTBC1D20). Here, we report on a patient with a homozygous pathogenic c.665delC (p.Pro222HisfsTer30) variant in theRAB3GAP1gene identified by whole-exome sequencing (WES) analyses. Only his father was a heterozygous carrier, and homozygosity mapping analysis of the WES data revealed large loss-of-heterozygosity regions in both arms of chromosome 2, interpreted as uniparental isodisomy. This uniparental disomy pattern could be due to paternal meiosis I nondisjunction because of the preserved heterozygosity in the pericentromeric region. This report provides novel insights, including a rare form of UPD, usage of homozygosity mapping analysis for the evaluation of isodisomy, and the first reported case of WARBM1 as a result of uniparental isodisomy
Extradural hematoma of the posterior cranial fossa
Fourteen cases of an extradural hematoma of the posterior fossa (EDHPF), are presented and the clinical and radiological findings are described. The onset of symptoms was acute in 10 patients and subacute in the other 4. Hematomas occurred in the younger age groups with a clear male predominance. Nine cases had suffered a blow to the head. A fracture of the occipital bone was seen in 86 % of the patients. The bleeder could be identified in 10 cases, and in 6 of these the source was a bleeding transverse sinus. The overall mortality was 14.2 %, but only patients with an acute course died (20 %). All subacute cases survived. This study revealed that the most important factors influencing mortality were late diagnosis and late treatment. Coexisting intracranial lesions had no influence on mortality According to the literature, there has been a certain decrease in mortality in the acute and subacute course patients since the introduction of computed tomography (CT) scanning. Emphasis is placed on the importance of occipital soft-tissue swelling and occipital fracture as clues to the possible presence of extradural hematomas, and of using the CT in all such patients even if no clinical symptoms are present
Acute subdural hematoma: outcome and outcome prediction
Patients with traumatic acute subdural hematoma were studied to determine the factors influencing outcome