Publications by authors named "Gombos E"

Article Synopsis
  • The central vein sign (CVS) is a proposed biomarker for diagnosing multiple sclerosis (MS) but traditional manual ratings for assessing CVS lesions can be slow and inconsistent.
  • This study compared an automated CVS detection method to manual rating in 86 participants being evaluated for MS using 3T MRI scans.
  • Results showed the automated method had a similar effectiveness in distinguishing MS patients from non-patients as the manual methods, with an area under the curve (AUC) ranging between 0.78 and 0.89, depending on the method used.
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Women who are at high risk of developing breast cancer warrant screening that is often initiated at younger ages than in average-risk women; this is usually with a combination of annual mammography and breast MRI. Compared to average-risk women, those at high risk are more frequently recommended to undergo screening during childbearing age and thus potentially during pregnancy and lactation. Understanding the appropriate use of screening breast imaging during pregnancy and lactation can be challenging due to limited data defining the evidence-based roles of the different imaging modalities, including mammography, US, and MRI.

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Intratumoral necrosis and peritumoral edema are features of aggressive breast cancer that may present as high T2 signal intensity (T2 SI). Implications of high T2 SI in HER2-positive cancers are unclear. The purpose of this study was to assess associations with histopathologic characteristics of high peritumoral T2 SI and intratumoral T2 SI of HER2-positive breast cancer on MRI performed before initiation of neoadjuvant therapy.

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Background: Real-world data of children with inflammatory bowel disease (IBD) after SARS-CoV-2 vaccination are needed.

Method: This prospective, observational study evaluate antibody kinetics of children with IBD 6 months after immunization with COVID-19 mRNA vaccine.

Results: 24 children with IBD were included, 22 received immunosuppressive treatment.

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Background: Unplanned hospitalizations among patients with advanced cancer are often sentinel events prompting goals of care discussions and hospice transitions. Late referrals to hospice, especially those at the end of life, are associated with decreased quality of life and higher total health care costs. Inpatient management of patients with solid tumor malignancies is increasingly shifting from oncologists to oncology hospitalists.

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Background: Nonmass enhancement (NME) on breast MRI impacts surgical planning.

Purpose: To evaluate positive predictive values (PPVs) and identify malignancy discriminators of NME ipsilateral to breast cancer on initial staging MRI.

Study Type: Retrospective.

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In the TRANS-IBD clinical trial, the outcomes are measured with selected validated questionnaires. Cross-cultural and age adaptations of the Self-Efficacy Scale for adolescents and young adults (IBD-SES), the Transition Readiness Assessment Questionnaire (TRAQ), and the Self-Management and Transition Readiness Questionnaire (STARx) were performed. Linguistic and cultural adaptation was carried out with the usage of reliability coefficients (Cronbach's α coefficients, Spearman's rank correlation), and with confirmatory factor analysis (CFA; root Mean Square Error of Approximation [RMSEA], Comparative Fit Index [CFI], and Tucker-Lewis Index [TLI]).

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Background: Smilow Cancer Hospital (SCH) introduced hospitalist comanagement to the inpatient oncology service to address long lengths of stay and oncologist burnout.

Objective: To determine the impact of hospitalists on inpatient quality outcomes and oncologist experience.

Interventions: Hospitalists were introduced to one of two inpatient oncology services at SCH.

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There are multiple indications for mastectomy for breast cancer, including extent of tumor, inability to achieve negative margins after re-excision, patient preference, or prevention in women with a high lifetime risk of breast cancer. Multiple types of autologous or implant reconstruction options are available for cosmesis. Although rare, breast cancers after mastectomy can occur, and it is important for both surgeons and radiologists to be aware of the associated risk factors, common locations, and classic imaging features of these malignancies.

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Purpose: To assess mammographic image quality in women with pectus excavatum (PEx) compared to women without PEx.

Materials & Methods: Fifty-six women with PEx between the ages 36-80 (median, 57 years) with screening mammograms from 2006 to 2020 were identified in an IRB-approved HIPAA-compliant retrospective review. Two fellowship-trained breast radiologists independently evaluated mammographic quality of 109 individual breasts in the 56 women using Enhancing Quality Using the Inspection Program (EQUIP) positioning criteria and visual breast density assessments.

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The specificity and implementation of current MRI-based diagnostic criteria for multiple sclerosis (MS) are imperfect. Approximately 1 in 5 of individuals diagnosed with MS are eventually determined not to have the disease, with overreliance on MRI findings a major cause of MS misdiagnosis. The central vein sign (CVS), a proposed MRI biomarker for MS lesions, has been extensively studied in numerous cross sectional studies and may increase diagnostic specificity for MS.

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Objective: To review MRI findings of pure lobular neoplasia (LN) on MRI guided biopsy, evaluate surgical and clinical outcomes, and assess imaging findings predictive of upgrade to malignancy.

Methods: HIPAA compliant, IRB-approved retrospective review of our MRI-guided breast biopsy database from October 2008-January 2015. Biopsies yielding atypical lobular hyperplasia or lobular carcinoma in situ were included in the analysis; all biopsy slides were reviewed by a dedicated breast pathologist.

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Objective: To compare lesion conspicuity on synthetic screening mammography (SM) plus digital breast tomosynthesis (DBT) versus full field digital mammography (FFDM) plus DBT.

Materials And Methods: Seven breast imagers each prospectively evaluated 107-228 screening mammograms (FFDM, DBT, and SM; total 1206 examinations) over 12 weeks in sets of 10-50 consecutive examinations. Interpretation sessions alternated as follows: SM + DBT, then FFDM, or FFDM + DBT, then SM.

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Article Synopsis
  • * Researchers gathered clinical and genetic data from 722 individuals across 249 families, noting that men had a significantly higher risk of progressing to ESKD at a median age of 47 years.
  • * The study revealed a lower frequency of the rs4293393 allele than expected, making it impossible to conduct a Mendelian randomization, but identified a new score that could effectively predict the age of ESKD based on uromod
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Purpose: The aim of this study was to establish the Y chromosome microdeletion and partial AZFc microdeletion/duplication frequency firstly in East Hungarian population and to gain information about the molecular mechanism of the heterogeneous phenotype identified in males bearing partial AZFc deletions and duplications.

Materials And Methods: Exactly determined sequences of azoospermia factor (AZF) region were amplified. Lack of amplification was detected for deletion.

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Background: Autosomal recessive polycystic kidney disease (ARPKD) is genetically one of the least heterogeneous ciliopathies, resulting primarily from mutations of PKHD1. Nevertheless, 13-20% of patients diagnosed with ARPKD are found not to carry PKHD1 mutations by sequencing. Here, we assess whether PKHD1 copy number variations or second locus mutations explain these cases.

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Objective: Fetal samples obtained by invasive techniques are prone to maternal cell contamination (MCC), which may lead to false genotyping results. Our aim was to determine 3 molecular genetic tests' sensitivity to MCC.

Method: By mixing experiments, 1%, 5%, 10%, 20%, 30%, and 40% MCC was simulated, and significant MCC levels were determined for Sanger DNA sequencing, multiplex ligation-dependent probe amplification (MLPA), and pyrosequencing, a next-generation sequencing method.

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Cytokines belonging to the common gamma chain (γ) family depend on the shared γ receptor subunit for signaling. We report the existence of a fast, cytokine-induced pathway cross-talk acting at the receptor level, resulting from a limiting amount of γ on the surface of T cells. We found that this limited abundance of γ reduced interleukin-4 (IL-4) and IL-21 responses after IL-7 preexposure but not vice versa.

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Article Synopsis
  • Mutations in the DMD gene are responsible for Duchenne and Becker muscular dystrophy, with missense mutations being a rare cause.
  • A six-month-old male patient exhibited symptoms like muscle weakness and high creatine kinase levels, prompting DMD gene analysis that initially suggested a deletion of exon 4.
  • Confirmation through sequencing revealed a novel point mutation in the DMD gene, predicted to destabilize a key protein domain, and emphasized the need for verification of MLPA results.
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Breast cancer is an increasing challenge in developed and limited resource areas of the world. Early detection of breast cancer offers the best chance for optimal care and best outcomes. A critical step in early detection is to obtain efficient and accurate tissue diagnoses.

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Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is caused a paternally inherited mutation and a somatic maternal allele loss.

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Purpose: To identify breast MR imaging biomarkers to predict histologic grade and receptor status of ductal carcinoma in situ (DCIS).

Materials And Methods: Informed consent was waived in this Health Insurance Portability and Accountability Act-compliant Institutional Review Board-approved study. Case inclusion was conducted from 7332 consecutive breast MR studies from January 1, 2009, to December 31, 2012.

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We assessed the feasibility of supine intraoperative MRI (iMRI) during breast-conserving surgery (BCS), enrolling 15 patients in our phase I trial between 2012 and 2014. Patients received diagnostic prone MRI, BCS, pre-excisional supine iMRI, and postexcisional supine iMRI. Feasibility was assessed based on safety, sterility, duration, and image-quality.

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Purpose To use intraoperative supine magnetic resonance (MR) imaging to quantify breast tumor deformation and displacement secondary to the change in patient positioning from imaging (prone) to surgery (supine) and to evaluate residual tumor immediately after breast-conserving surgery (BCS). Materials and Methods Fifteen women gave informed written consent to participate in this prospective HIPAA-compliant, institutional review board-approved study between April 2012 and November 2014. Twelve patients underwent lumpectomy and postsurgical intraoperative supine MR imaging.

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