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Osteogenesis imperfecta (OI) is a group of inherited disorders with increased bone fragility and wide genetic heterogeneity. We report the outcome of clinical exome sequencing validated by Sanger sequencing in clinically diagnosed 54 OI patients in Indian population. In 52 patients, we report 20 new variants involving both dominant and recessive OI‐specific genes and correlate these with phenotypes. COL1A1 and COL1A2 gene variants were identified in 44.23%, of which 28.84% were glycine substitution abnormalities. Two novel compound heterozygous variants in the FKBP10 gene were seen in two unrelated probands. A novel heterogeneous duplication of chromosomal region chr17: 48268168–48278884 from exons 1–33 of the COL1A1 gene was found in one proband. In five probands, there were additional variants in association with OI. These were ANO5 in association with CRTAP in two probands of the same family causing gnathodiaphyseal dysplasia, COL5A2 with LEPRE1 causing Ehlers Danlos syndrome, COL11A1 in addition to COL1A1 causing Stickler syndrome, and a previously unreported combination of SLC34A1 gene variant with FKBP10 leading to Fanconi renal tubular syndrome type II. Our findings demonstrate the efficacy of clinical exome sequencing in screening OI patients, classifying its subtypes, and identifying associated disorders in consanguineous populations.

Objectives Early detection of bleeding into a joint is crucial in patients with haemophilia. This study was designed to evaluate the sensitivity of ultrasonography (USG) and magnetic resonance imaging (MRI) to detect the presence of blood in small concentrations in a simulated model to mimic joint bleeding. Materials and Methods Different concentrations of blood in plasma, varying from 0.1% to 45%, were collected in 10‐ml plastic syringes and imaged using 12 and 18 MHz USG transducers and with 1.5T and 3T MRI scanners, at different intervals of time following dilution. The images were scored for the presence of blood by four experienced radiologists who were blinded to the concentration of blood. Results Within the first 2 h, the 18 MHz transducer was able to detect blood consistently up to 0.5%, whereas the 12 MHz transducer could consistently identify blood up to 1.4%. After the first 12 h, both transducers were able to detect blood up to 0.5% concentration. However, at concentrations below 0.5%, there was discordance in the ability to detect blood, with both transducers. There was no correlation between the signal intensities of MRI images and concentration of blood, at different time intervals, irrespective of the magnetic field strength. Conclusions Detection of blood using the USG is dependent on variables such as the concentration of blood, frequency of the transducer used and timing of the imaging. As the concentration of blood decreases below 0.5%, the discordance between the observers increases, implying that the detection limit of USG affects its reliability at lower concentrations of blood. Caution is urged while interpreting USG imaging studies for the detection of blood in symptomatic joints.

Sacroiliitis is one of the criteria for classification as spondyloarthritis (SpA), though not unique to SpA. Other conditions including gout may be erroneously diagnosed as SpA due to sacroiliitis. The objective was to identify specific CT findings in sacroiliitis associated with SpA and gout. In this retrospective study, CT images of patients with sacroiliitis and clinical diagnosis of gout or SpA from 2010 to 2015 were independently reviewed by two radiologists, blinded to diagnosis. Axial and coronal oblique images were analyzed for characteristics of erosions. The receiver operator characteristic curve was constructed to analyze the discriminating ability of radiological findings. CT SI joint images of 11 patients with gout and 224 patients with SpA were re-analyzed. There was excellent agreement between the radiologists (ICC from 0.78 to 1). Erosions were more numerous in SpA. Erosions in gout were associated with tophi in 65.7% (73/111). Erosions in gout were para-articular and had sclerotic margins, overhanging edges, and multilobulated base (P < 0.0001 for all). Length and depth of erosions were more in gout as compared to SpA. AUCs for length, depth of erosions, and subchondral sclerosis were 0.665, 0.694, and 0.991, respectively. Subchondral sclerosis ≤ 4.5 mm had a sensitivity and specificity of 100 and 96%, respectively, for diagnosis of gout. In addition to known radiological features of gout, multilobulated base of erosions and absence of subchondral sclerosis could possibly distinguish sacroiliitis in SpA from gout. Our limited analysis suggests that CT imaging could help in differentiating the two.

Background Infectious spondylodiscitis is a debilitating condition and evidence-based medicine dictates confirming the diagnosis before treatment. Computed tomography–guided spinal biopsy plays a major role and hence we would like to determine its utility in current clinical practice. Purpose The purpose of this study is to determine the percentage of confirmatory positives of CT-guided spinal biopsy in patients who were clinicoradiologically diagnosed with infectious spondylitis. Material and Methods A retrospective analysis of patients who underwent CT-guided biopsy for suspected infectious spondylodiscitis from 2017 to 2021 in a tertiary medical center was done. The data were filtered and obtained from the electronic database of the institution. Results In all, 259 patients underwent CT-guided biopsy of the spine. The procedure provided confirmatory results in 149 (57.5%) biospecimens. Histopathology examination was confirmatory in 95 (36.6%) of the 241 biospecimens sent. The Mycobacteria Growth Indicator Tube (MGIT) was confirmatory in 51 (19.9%) of the 250 biospecimens sent and drug resistance was seen in 6/51 (11.7%) biospecimens. Xpert TB provided confirmatory results in 72 (27.8%) of the 254 biospecimens sent and rifampicin resistance was seen in 16/72 (22.2%) biospecimens. Bacterial culture was confirmatory in 29 (11.2%) of the 250 biospecimens sent. The complication documented in this study was 0.3%. Conclusion CT-guided spinal biopsy for suspected vertebral osteomyelitis is a safe and effective minimally invasive procedure. It demonstrates a positive yield in more than half of the patients. Knowing the outcome, the patients can be appropriately counseled prior to the procedure. CT-guided biopsy results were affected by prior administration of ATT (antitubercular therapy) in suspected tuberculous spondylitis patients.