The development of current sexing methods largely depends on the use of adequate sources of data and adjustable classification techniques. Most sex estimation methods have been based on linear measurements, while the angles have been largely ignored, potentially leading to the loss of valuable information for sex discrimination. This study aims to evaluate the usefulness of cranial angles for sex estimation and to differentiate the most dimorphic ones by training machine learning algorithms.
View Article and Find Full Text PDFBackground: Autosomal recessive spastic ataxia ofCharlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder characterizedby early-onset cerebellar ataxia, peripheral sensorimotor neuropathy, and lowerlimb spasticity. We present clinical andgenetic data of the first Bulgarian patients diagnosed with ARSACS by wholeexome sequencing (WES).
Methods: Variant filtering was performed usinglocally established pipeline and the selected variants were analysed by Sangersequencing.
Raising public awareness about the relevance of supporting sustainable practices is required owing to the phenomena of global warming caused by the rising production of greenhouse gases. The healthcare sector generates a relevant proportion of the total carbon emissions in developed countries, and radiology is estimated to be a major contributor to this carbon footprint. Neuroradiology markedly contributes to this negative environmental effect, as this radiological subspecialty generates a high proportion of diagnostic and interventional imaging procedures, the majority of them requiring high energy-intensive equipment.
View Article and Find Full Text PDFTransient perivascular inflammation of the carotid artery (TIPIC syndrome) is a rare, unclassified vascular syndrome that usually affects the distal part of the common carotid artery and has a favorable prognosis. The disease is often misdiagnosed even by neurologists due to the moderate intensity of clinical symptoms and their transient character. We present a case of a 52-year-old man who experienced two episodes of transient neck pain and moderate local tenderness one and a half years apart.
View Article and Find Full Text PDFColorectal cancer is the third most common oncological disease worldwide. The standard treatment of locally advanced rectal tumors is neoadjuvant radiochemotherapy in combination with surgical resection. The choice of specific treatment algorithm is highly dependent on MRI findings.
View Article and Find Full Text PDFThe degree of sexual dimorphism expressed by human bones is of primary importance for the development of accurate methods for sex estimation. The objective of the present study was to investigate sex differences in shape and size of the mandible using geometric morphometric methods. The study also aimed to examine the impact of age on the sex classification ability of the size and shape of the mandible.
View Article and Find Full Text PDFMedical imaging and machine learning are beneficial approaches in physical and forensic anthropology. They are particularly useful for the development of models for sex identification based on bone remains. The present study uses machine learning algorithms to create models for sex estimation based on mandibular measurements.
View Article and Find Full Text PDFSevere traumatic brain injury (TBI) is often associated with diffuse axonal injury. Diffuse axonal injury affecting the corpus callosum may present with intraventricular hemorrhage on baseline computed tomography (CT) scan. Posttraumatic corpus callosum damage is a chronic condition that can be diagnosed over the long term using various magnetic resonance imaging (MRI) sequences.
View Article and Find Full Text PDFSellar (caroticoclinoid and interclinoid), pterygospinous and pterygoalar bridges are osseous bars of the sphenoid bone, which enclose additional foramina in the skull base and could cause entrapment of nerves, occlusion of vessels and obstruction of surgical corridors. This study aimed to investigate the frequency of sphenoid bone bridges in Bulgarians and to assess the bilateral and sex differences in their distribution. This study was performed on head CT scans of 315 Bulgarians, 148 males and 167 females.
View Article and Find Full Text PDFThe level of sexual dimorphism manifested by human bones is an important factor for development of effective sex estimation methods. The aim of the study was to investigate the sexual dimorphism in the size and shape of the viscerocranium using geometric morphometric techniques. It also aimed to explore the sex differences in distinct viscerocranial regions and to establish the most dimorphic region with regard to size and shape.
View Article and Find Full Text PDFPediatric neuroradiology is a subspecialty within radiology, with possible pathways to train within the discipline from neuroradiology or pediatric radiology. Formalized pediatric neuroradiology training programs are not available in most European countries. We aimed to construct a European consensus document providing recommendations for the safe practice of pediatric neuroradiology.
View Article and Find Full Text PDFSex identification is a primary step in forensic analysis of skeletal remains. The accuracy of sex estimation methods greatly depends on the sexual dimorphism manifested by the target anatomical region. The study aims to evaluate the sexual dimorphism in shape and size of the neurocranium and to compare the potential of shape and size of different cranial regions to classify correctly the male and female crania.
View Article and Find Full Text PDFPathogenic variants in MYH7 cause a wide range of cardiac and skeletal muscle diseases with childhood or adult onset. These include dilated and/or hypertrophic cardiomyopathy, left ventricular non-compaction cardiomyopathy, congenital myopathies with multi-minicores and myofiber type disproportion, myosin storage myopathy, Laing distal myopathy and others (scapulo-peroneal or limb-girdle muscle forms). Here we report the results from molecular genetic analyses (NGS and Sanger sequencing) of 4 patients in two families with variable neuromuscular phenotypes with or without cardiac involvement.
View Article and Find Full Text PDFThe aim of the present study is to apply support vector machines (SVM) and artificial neural network (ANN) as sex classifiers and to generate useful classification models for sex estimation based on cranial measurements. Besides, the performance of the generated sub-symbolic machine learning models is compared with models developed through logistic regression (LR). The study was carried out on computed tomography images of 393 Bulgarian adults (169 males and 224 females).
View Article and Find Full Text PDFBackground To assess different types of adnexal masses as identified by 3T MRI and to discuss the added value of diffusion techniques compared with conventional sequences. Patients and methods 174 women age between 13 and 87 underwent an MRI examination of the pelvis for a period of three years. Patients were examined in two radiology departments - 135 of them on 3 Tesla MRI Siemens Verio and 39 on 3 Tesla MRI Philips Ingenia.
View Article and Find Full Text PDFThe aim of the present study is to develop effective and understandable classification models for sex estimation and to identify the most dimorphic linear measurements in adult crania by means of data mining techniques. Furthermore, machine learning models and models developed through logistic regression analysis are compared in terms of performance. Computed tomography scans of 393 adult individuals were used in the study.
View Article and Find Full Text PDFThe purpose of this article is to review the characteristic CT and MRI findings associated with monogenetic causes of ischemic and hemorrhagic stroke in children and young adults. Ischemic and hemorrhagic stroke in children and young adults remains a common cause of acquired disability but is underrecognized. Brain parenchymal and vascular imaging is commonly performed as part of the comprehensive evaluation of young patients presenting with stroke.
View Article and Find Full Text PDFForamen magnum (FM) has a well-protected position, which makes it of particular interest in forensic research. The aim of the study is to assess the sex differences in size and shape of FM, develop discriminant functions and logistic regression models based on the FM measurements, compare the accuracy results of the measurements obtained through different measuring approaches, and establish the most reliable variables for sex estimation in Bulgarian adults. Head CT scans of 140 Bulgarian adults were used in the study.
View Article and Find Full Text PDFMutations in TCAP gene cause autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G), congenital muscular dystrophy and autosomal dominant dilated and hypertrophic cardiomyopathy. We studied 18 affected individuals from 12 pedigrees, belonging to a Bulgarian Muslim minority from the South-West of Bulgaria, homozygous for the c.75G>A, p.
View Article and Find Full Text PDFBackground: The aim of the study is to measure the facial soft tissue thicknesses (STTs) in Bulgarians, to evaluate the relation of the STTs to the nutritional status, sex and bilateral asymmetry, and to examine the correlations between the separate STTs as well as between the STTs and body weight, height, and body mass index (BMI). In the present study, the facial STTs were measured on computed tomography scans of the head of Bulgarian adults.
Materials And Methods: The STTs were measured at 7 midline and 9 bilateral landmarks.
Background: Ischemic acute stroke is a leading cause for mortality and invalidity in recent years. Clinical trials show the role of ADMA as endogenous inhibitor of nitric oxide synthase and its connection to acute stroke. An early decrease of serum ADMA levels might help in recovery of the blood stream in patients with acute stroke and non-affective changes in the brain.
View Article and Find Full Text PDFCongenital cataracts, facial dysmorphism, neuropathy (CCFDN) syndrome is a complex autosomal recessive multisystem disorder. The aim of the current study is to evaluate the degree of cognitive impairment in a cohort of 22 CCFDN patients and its correlation with patients' age, motor disability, ataxia, and neuroimaging changes. Twenty-two patients with genetically confirmed diagnosis of CCFDN underwent a detailed neurological examination.
View Article and Find Full Text PDFThe aim of this review was to present the modern concepts of diagnostic imaging in acute stroke. Neuroimaging in acute stroke aims at diagnosing the condition as early as possible and assessing the extent of parenchymal perfusion and the intracranial vessels patency. A modern approach would involve a combination of various imaging modalities as multidetector computed tomography and high field magnetic resonance imaging.
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