Publications by authors named "Roman M Kowalchuk"
Article Synopsis
- Big genomic data and AI are helping doctors understand and treat rare diseases better by focusing on specific groups of patients.
- Researchers created a tool called GAiN that uses advanced technology to find important genes in small sets of data, even when there aren't many samples available.
- GAiN can be downloaded for free on GitHub and is especially useful for analyzing genes in cases with few samples, like rare diseases.
Purpose: A new magnetic resonance imaging (MRI) based scoring system for temporomandibular joint (TMJ) internal derangement was developed to predict disease severity and the likelihood of invasive treatment.
Patients And Methods: Reports and images from bilateral TMJ MRI studies of 100 consecutive patients with TMJ pain were retrospectively reviewed. A Temporomandibular Joint Internal Derangement Score (TIDS) score was composed of 6 MRI characteristics: joint effusion, disc displacement, disc nonrecapture, disc degenerative changes, abnormal condyle translation, and condyle arthritis.
Gallbladder duplication is a rare anatomic variant of biliary anatomy, which can present diagnostic and treatment challenges. In this case, a 49-year-old male presented with classic symptoms of biliary colic to his primary care physician, and while computed tomography (CT) noted the presence of gallstones, neither CT nor ultrasound was able to locate a gallbladder within the gallbladder fossa. Initial surgery found and cauterized a rudimentary gallbladder, but symptoms persisted, requiring a second surgery and secondary analysis of CT, ultrasound, and magnetic resonance imaging with magnetic resonance cholangiopancreatography.
View Article and Find Full Text PDFObjective: To determine if there is an association between radiographic osteoarthritis (OA) of the hand and the presence of hemochromatosis HFE gene mutations.
Methods: One hundred seventy-six patients with radiographic OA of the hand were randomly selected from an academic rheumatology practice. We measured serum transferrin saturation (TS) and ferritin levels, and genotyped for the presence of the 2 common HFE mutations, C282Y and H63D.