Diagnostics, Volume 11, Issue 12

Sensorineural hearing impairment is a common sensory deficit in children and more than 50% of these cases are caused by genetic etiologies, that is, hereditary hearing impairment (HHI). Recent advances in genomic medicine have revolutionized the diag...

Chronic obstructive pulmonary disease (COPD) is one of the leading causes of mortality and contributes to high morbidity worldwide. Patients with COPD have a higher risk for acute respiratory failure, ventilator dependence, and mortality after hospit...

Venous thromboembolism (VTE), consisting of deep vein thrombosis (DVT) and pulmonary embolism (PE), requires a forensic age determination to ascertain their causal relationship with recent events, such as trauma or medical treatment. The main objecti...

Cardiac and cardiovascular malformations are of real interest in terms of definition, epidemiology, and means of early diagnosis by imaging. Although ultrasound examination reaches exceptional performance nowadays, unusual pathologies are still expos...

Transcatheter aortic valve implantation (TAVI) is an alternative to open heart surgery in the treatment of symptomatic aortic valve stenosis, which is often the treatment of choice in elderly and frail patients. It carries a risk of embolic complicat...

Most endocervical adenocarcinomas (EAC) are associated with high-risk HPV (hrHPV) infection, with HPV genotypes 16, 18 and 45 accounting for >90% of the cases. Among endocervical glandular lesions, screening with hrHPV test has previously shown to...

Grade 3 (G3) neuroendocrine tumors (NETs) are a novel category among digestive neuroendocrine neoplasms, characterized by Ki-67 >20% and a well-differentiated morphology, presenting high intra-tumor heterogeneity. We aimed to explore the role of d...

Numerous immunoassays have been developed to measure the levels of chromogranin A (CgA), a useful biomarker for diagnosing and monitoring generally heterogeneous neuroendocrine tumors (NETs). Here, we evaluated the imprecision and linearity of three...

Dual-energy X-ray absorptiometry is the gold standard for evaluating Bone Mineral Density (BMD); however, a typical BMD report is generated in a time-inefficient manner and is prone to error. We developed a rule-based automated reporting system, Batc...

Dopaminergic signaling is believed to be related to autistic traits. We conducted an exploratory 3,4-dihydroxy-6-[¹⁸F]-fluoro-L-phenylalanine positron emission tomography/computed tomography ([¹⁸F]-FDOPA PET/CT) study, to examine cerebral [¹⁸F]-FDOPA...

Several studies have shown that in recent years incidence of acute otitis media (AOM) has declined worldwide. However, related medical, social, and economic problems for patients, their families, and society remain very high. Better knowledge of pote...

Colorectal cancer (CRC) is the third most diagnosed cancer in men (after prostate and lung cancers) and in women (after breast and lung cancer). It is the second cause of cancer death in men (after lung cancer) and the third one in women (after breas...

The primary imaging modality for the diagnosis of patent ductus arteriosus (PDA) is echocardiography. However, CT may be the technique on which an incidental PDA is first recognized because of the increasing number of chest CT scans performed for a v...

Inflammatory bowel diseases (IBD) are chronic and relapsing disorders usually requiring numerous medical imaging. IBD patients might be exposed to a large dose of radiation. As a cumulative effective dose (CED) ≥ 50 mSv is considered significant f...

Background: Infantile myofibromatosis (IM) is a soft tissue disease with solitary or multiple benign tumors, and an etiology still unknown. IM is a mesenchymal disorder of early infancy and is more frequent in males. IM may present as a solitary lesi...

Cerebral venous outflow is investigated in the diagnosis of heart failure through the monitoring of jugular venous pulse, an indicator to assess cardiovascular diseases. The jugular venous pulse is a weak signal stemming from the lying internal jugul...

The aim of this study was to analyze the possibility of simultaneous determination of the concentration of components from the characteristics of FTIR spectra using the example of a model blood serum. To prepare model solutions, a set of freeze-dried...

Many patients diagnosed with empty nose syndrome (ENS) later develop mental illness. The literature addressing biomarkers associated with postoperative psychiatric status is limited. This study aimed to assess the association between high-sensitivity...

Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for l...

Parkinson’s disease (PD) is a common neurodegenerative disease that has a significant impact on people’s lives. Early diagnosis is imperative since proper treatment stops the disease’s progression. With the rapid development of CAD...

Anastomotic leakage is a potentially severe complication occurring after colorectal surgery and can lead to increased morbidity and mortality, permanent stoma formation, and cancer recurrence. Multiple risk factors for anastomotic leak have been iden...

Radiogenomic and radiotranscriptomic studies have the potential to pave the way for a holistic decision support system built on genomics, transcriptomics, radiomics, deep features and clinical parameters to assess treatment evaluation and care planni...

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has spread worldwide causing a global pandemic. In this context, lung ultrasound (LUS) has played an important role due to its high diagnostic sensitivity, low costs, simplicity of executio...

Background and objective: Diplopia is relatively common in Parkinson’s disease (PD) but is still understudied. Our aim was to analyze the frequency of diplopia in PD patients from a multicenter Spanish cohort, to compare the frequency with a co...

Patients with primary hyperparathyroidism (pHPT) can develop persistent (P-pHPT) or recurrent (R-pHPT) disease after parathyroidectomy. Before recommending reoperation, recurrence must be accurately identified because of the high risk of complication...

Diffusion MRI is a useful tool to investigate the microstructure of brain tumors. However, the presence of fast diffusing isotropic signals originating from non-restricted edematous fluids, within and surrounding tumors, may obscure estimation of the...

Insanity defense is sometimes invoked in criminal cases, and its demonstration is usually based on a multifactorial contribution of behavioural, clinical, and neurological elements. Neuroradiological evidence of structural alterations in cerebral are...

Over the last decades, overall survival for most cancer types has increased due to earlier diagnosis and more effective treatments. Simultaneously, whole-body MRI-(WB-MRI) has gained importance as a radiation free staging alternative to computed tomo...

Due its ability to provide a global snapshot of kidney physiology, urine has emerged as a highly promising, non-invasive source in the search for new molecular indicators of disease diagnosis, prognosis, and surveillance. In particular, proteomics re...

To increase the effectiveness of anticancer therapy based on immune checkpoint (IC) inhibition, some ICs are being investigated in addition to those used in clinic. We reviewed data on the relationship between PD-L1, B7-H3, B7-H4, IDO1, Galectin-3 an...

Ulcerative colitis (UC) is a recurrent, chronic intestinal disease that is currently incurable. Its pathogenesis remains to be further understood. Therefore, seeking new biomarkers and potential drug targets is urgent for the effective treatment of U...

Respiratory screening assays lacking Sample Adequacy Controls (SAC) may result in inadequate sample quality and thus false negative results. The non-adequate samples might represent a significant proportion of the total performed tests, thus resultin...

Amyloid β 42/40 concentration quotient has been empirically shown to improve accuracy of the neurochemical diagnostics of Alzheimer’s Disease (AD) compared to the Aβ42 concentration alone, but this improvement in diagnostic performanc...

The aim of this paper is to report clinically various cases of intracranial tumors in patients referred to glaucoma clinic for consultation. The secondary aim was to increase the awareness of intracranial tumors in atypical cases of glaucoma. We pres...

Aims: To evaluate spectral photon-counting CT’s (SPCCT) objective image quality characteristics in vitro, compared with standard-of-care energy-integrating-detector (EID) CT. Methods: We scanned a thorax phantom with a coronary artery module at...

The detection of actionable mutations in tumor tissue is a prerequisite for treatment customization in patients with metastatic colorectal cancer (mCRC). Analysis of circulating tumor DNA (ctDNA) for the identification of such mutations in patients&r...

The present study evaluates the diagnostic reliability of virtual non-contrast (VNC) images acquired with the first photon counting CT scanner that is approved for clinical use by comparing quantitative image properties of VNC and true non-contrast (...

Tuberculosis (TB) is a public health issue that affects mostly, but not exclusively, developing countries. Abdominal TB is difficult to detect at first, with the incidence ranging from 10% to 30% of individuals with lung TB. Symptoms are non-specific...

Patients with rheumatoid arthritis (RA) are at increased risk for cardiovascular disease (CVD). Risk chart algorithms, such as the Systematic Coronary Risk Assessment (SCORE), often underestimate the risk of CVD in patients with RA. In this sense, th...

Background: Neuroblastoma (N.B.) is the most common tumor in children. The gene BDP1 (B Double Prime 1) plays a role in cancers but is less known in N.B. Thus, we conducted this study to investigate the value of BDP1 mutations in N.B. prognosis. Meth...

Crohn’s disease (CD) and ulcerative colitis (UC) can be difficult to differentiate. As differential diagnosis is important in establishing a long-term treatment plan for patients, we aimed to develop a machine learning model for the differentia...

The occurrence of anti-endothelin A receptor antibodies may be useful in diagnosis of transplant damage. We noticed that the presence of the endothelin A receptor (ETA receptor) in biopsy compartments is yet to be defined. We decided therefore to ana...

(1) Background: COVID-19 computed tomography (CT) lung segmentation is critical for COVID lung severity diagnosis. Earlier proposed approaches during 2020–2021 were semiautomated or automated but not accurate, user-friendly, and industry-standa...

To confirm the diagnosis of large vessel vasculitis (LVV) with high accuracy, one of the recommended imaging techniques is [¹⁸F]Fluoro-2-deoxy-d-glucose positron emission tomography with computed tomography ([¹⁸F]FDG-PET/CT). Visual assessment of [¹⁸...

Associations between corneal biomechanics, axial elongation and myopia are important but previous results are conflicting. Our population-based study aimed to investigate factors associated with corneal biomechanics, and their relationships with myop...

Two cases of Sporadic Burkitt’s lymphoma in children aged 11 and 8 years with primary symptoms in the oral cavity are reported. The first symptoms of the disease appeared in the oral cavity and were initially misdiagnosed as an inflammatory con...

The correct affiliation 1 should be “Italian National Blood Centre, National Institute of Health, 00162 Rome, Italy” [...]

We performed a multi-institutional analysis of 74 children with ependymoma to evaluate to what extent the clinical outcome of prospective trials could be reproduced in routine practice. The evaluation of factors that correlated with outcome was perfo...

Background: The aim of this study was to investigate the efficacy of post-neoadjuvant chemotherapy (NAC) ultrasound (US), magnetic resonance imaging (MRI), and F-18fluorodeoxyglucose positron emission tomography (F-18 FDG-PET/CT) for detecting post-N...

Objective: The aim of this study is to propose a standardized management of care for patients diagnosed with cesarean scar pregnancy (CSP). There are two types of CSP: Type 1 (on the scar) vs. type 2 (in the niche). To date there is no international...