Diagnostic performance of synthetic relaxometry for predicting neurodevelopmental outcomes in premature infants: a feasibility study.

OBJECTIVES: To investigate the predictability of synthetic relaxometry for neurodevelopmental outcomes in premature infants and to evaluate whether a combination of relaxation times with clinical variables or qualitative MRI abnormalities improves the predictive performance. METHODS: This retrospective study included 33 premature infants scanned with synthetic MRI near or at term equivalent age. Based on neurodevelopmental assessments at 18-24 months of corrected age, infants were classified into two groups (no/mild disability [n = 23] vs. moderate/severe disability [n = 10]). Clinical and MRI characteristics associated with moderate/severe disability were explored, and combined models incorporating independent predictors were established. Ultimately, the predictability of relaxation times, clinical variables, MRI findings, and a combination of the two were evaluated and compared. The models were internally validated using bootstrap resampling. RESULTS: Prolonged T1-frontal/parietal and T2-parietal periventricular white matter (PVWM), moderate-to-severe white matter abnormality, and bronchopulmonary dysplasia were significantly associated with moderate/severe disability. The overall predictive performance of each T1-frontal/-parietal PVWM model was comparable to that of individual MRI finding and clinical models (AUC = 0.71 and 0.76 vs. 0.73 vs. 0.83, respectively; p > 0.27). The combination of clinical variables and T1-parietal PVWM achieved an AUC of 0.94, sensitivity of 90%, and specificity of 91.3%, outperforming the clinical model alone (p = 0.049). The combination of MRI finding and T1-frontal PVWM yielded AUC of 0.86, marginally outperforming the MRI finding model (p = 0.09). Bootstrap resampling showed that the models were valid. CONCLUSIONS: It is feasible to predict adverse outcomes in premature infants by using early synthetic relaxometry. Combining relaxation time with clinical variables or MRI finding improved prediction. CLINICAL RELEVANCE STATEMENT: Synthetic relaxometry performed during the neonatal period may serve as a biomarker for predicting adverse neurodevelopmental outcomes in premature infants. KEY POINTS: • Synthetic relaxometry based on T1 relaxation time of parietal periventricular white matter showed acceptable performance in predicting adverse outcome with an AUC of 0.76 and an accuracy of 78.8%. • The combination of relaxation time with clinical variables and/or structural MRI abnormalities improved predictive performance of adverse outcomes. • Synthetic relaxometry performed during the neonatal period helps predict adverse neurodevelopmental outcome in premature infants.

Prenatal Diagnosis of Fetal Obstructed Hemivagina and Ipsilateral Renal Agenesis (OHVIRA) Syndrome.

Background: Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome, also known as Herlyn-Werner-Wunderlich syndrome, is a rare syndrome characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Most cases of OHVIRA have been reported in adolescents or adults. Gartner duct cysts, including those manifesting as vaginal wall cysts, are also rare. Fetal OHVIRA syndrome and Gartner duct cysts are difficult to diagnose. Case Presentation: Here, the authors report a case of combined OHVIRA and Gartner duct cyst diagnosed prenatally by ultrasonography, along with a brief review of the relevant published reports. A 30-year-old nulliparous female was referred to our institution at 32 weeks' gestation for fetal right kidney agenesis. Detailed ultrasonographic examinations using 2D, 3D, and Doppler ultrasounds revealed hydrocolpometra, and uterus didelphys, with a normal anus and right kidney agenesis. Conclusions: When encountering female fetuses with ipsilateral renal agenesis or vaginal cysts, clinicians should be aware of OHVIRA syndrome and Gartner duct cysts and perform systematic ultrasonographic examinations for other genitourinary anomalies.

Extramedullary Relapse of Acute Lymphoblastic Leukemia Involving the Parotid Gland: A Case Report and Literature Review.

While extramedullary relapse of leukemia could occur, the parotid gland is a rare site of recurrence. Extramedullary relapse involving the parotid gland could be mistaken for other diseases. Moreover, the diagnosis of this disease is often delayed due to its rarity. Herein, we present a case of extramedullary relapse of acute lymphoblastic leukemia involving the parotid gland.

Intestinal Ganglioneuromatosis in a Pediatric Patient Presenting as Perforation: A Case Report and Literature Review.

Intestinal ganglioneuromatosis is an extremely rare condition, particularly in pediatric patients, and the imaging features of the disease have been rarely reported before. Herein, we present a pediatric case of intestinal ganglioneuromatosis involving the transverse colon and splenic flexure with bowel perforation, which is a rare initial manifestation of the disease.

Left ventricular rehabilitation in an infant with transposition of the great arteries, intact ventricular septum, pulmonary stenosis and small left ventricle.

We report the case of successful biventricular repair after left ventricular rehabilitation in an infant with transposition of the great arteries with an intact ventricular septum, pulmonary stenosis, a large atrial septal defect and a borderline small left ventricle (mitral annulus z-score: -3.6). This baby presented to us at 2 months of age after having a modified Blalock-Taussig shunt at another hospital. We restricted the atrial septal defect with the child on cardiopulmonary bypass. Ten weeks later, the mitral annulus z-score increased to -1.5, and the transpulmonary peak pressure gradient increased to 87 mmHg. Subsequently, we performed the aortic root translocation. The patient is currently an active 4-year-old boy.

Detection of Incidental Prostate Cancer or Urothelial Carcinoma Extension in Urinary Bladder Cancer Patients by Using Multiparametric MRI: A Retrospective Study Using Prostate Imaging Reporting and Data System Version 2.0.

Purpose: The study aimed to investigate the role of Prostate Imaging Reporting and Data System version 2 (PI-RADS v2) in predicting incidental prostate cancer (PCa) or urothelial carcinoma (UCa) extension in urinary bladder (UB) cancer patients. Materials and Methods: A total of 72 UB cancer patients who underwent radical cystoprostatectomy and 3 Tesla multiparametric MRI before surgery were enrolled. PI-RADS v2 ratings were assigned by two independent radiologists. All prostate specimens were examined by a single pathologist. We compared the multiparametric MRI findings rated using PI-RADS v2 with the pathologic data. Results: Of the 72 UB cancer patients, 29 had incidental PCa (40.3%) and 20 showed UCa extension (27.8%), with an overlap for 3 patients. With a score of 4 as the cut-off value for predicting incidental PCa, the diagnostic accuracy was 65.3%, specificity was 90.7%, and positive predictive value (PPV) was 66.7%. The diagnostic accuracy for incidental UCa extension was 47.2%, specificity was 92.3%, and PPV was 83.3%. Conclusion: Despite the low diagnostic accuracy, the PPV and specificity were relatively high. Therefore, PI-RADS v2 scores of 1, 2, or 3 may help exclude the probability of incidental PCa or UCa extension.

Pediatric head computed tomography with advanced modeled iterative reconstruction: focus on image quality and reduction of radiation dose.

BACKGROUND: Iterative reconstruction has become the standard method for reconstructing computed tomography (CT) scans and needs to be verified for adaptation. OBJECTIVE: To assess the image quality after adapting advanced modeled iterative reconstruction (ADMIRE) for pediatric head CT. MATERIALS AND METHODS: We included image sets with filtered back projection reconstruction (the cFBP group, n=105) and both filtered back projection and ADMIRE reconstruction (the lower-dose group, n=109) after dose reduction. All five strength levels of ADMIRE and filtered back projection were adapted for the lower-dose group and compared with the cFBP group. Quantitative parameters including noise, signal-to-noise ratio and contrast-to-noise ratio and qualitative parameters including noise, white matter and gray matter differentiation of the supra- and infratentorial levels, sharpness, artifact, and diagnostic accuracy were also evaluated and compared with interobserver agreement. RESULTS: There was a mean dose reduction of 30.6% in CT dose index volume, 32.1% in dose length product, and 32.1% in effective dose after tube current reduction. There was gradual reduction of noise in air, cerebrospinal fluid and white matter with strength levels of ADMIRE from 1 to 5 (P<0.001). Signal-to-noise ratio and contrast-to-noise ratio in all age groups increased among strength levels of ADMIRE, in sequence from 1 to 5, with statistical significance (P<0.001). Gradual reduction of qualitative parameters was noted among strength levels of ADMIRE in sequence from 1 to 5 (P<0.001). CONCLUSION: Use of ADMIRE for pediatric head CT can reduce radiation dose without degrading image quality.

Effect of using immobilization device in fluoroscopic study in pediatric patient: Focused on radiation dose reduction in voiding cystourethrogram.

INTRODUCTION: To prove objective effect of using mechanical device for immobilization of pediatric patient during voiding cystourethrogram (VCUG) compare immobilization by hand-holding. METHODS: This study included 77 patients, who underwent VCUG in our center from April to October 2017, who had a clinically suspicious urinary tract infection. Patients were classified into one of two groups based on whether examination was done before (Group A) or after (Group B) adaptation of immobilization device. Patient-related data, image quality related score and dose-related data were collected and compared between two groups. RESULTS: Group A included 36 patients and group B included 41. Patient related data including mean age, sex, body weight and height didn't show significant difference between two groups (p > 0.05 for all). Among the image quality scoring, overall image quality, motion artifact, showed significant difference between two groups with improved inadequate timing and centering after adaptation of immobilization device. Dose related data showed significantly decreased shot number, mean fluoroscopic time with decreased mean dose area product (DAP) value and effective dose after adaptation of immobilization device (p < 0.05 for all). CONCLUSION: Adaptation of immobilization device can improve overall image quality with decreased motion artifact and improved centering and timing with even shot number, mean fluoroscopic time with decreased mean DAP value and effective dose.

Adenovirus pneumonia treated with Cidofovir in an immunocompetent high school senior.

Most adenovirus infections are self-limiting in immunocompetent individuals. Here, we report a case of adenovirus pneumonia in a 17-year-old immunocompetent male. He was admitted to our emergency room complaining of a febrile sense, cough, and diarrhea for four days. Crackles in the left lung and a high fever (40.7 °C) were revealed. Initial chest X-ray and computed tomography images showed consolidation in the left lung. We immediately started empirical antibiotic treatment, but his clinical symptoms and pneumonic consolidation in radiography had not improved by hospital day three. Because adenovirus was detected in his sputum using RT-PCR, he was administered Cidofovir. After 24 h of Cidofovir treatment, the symptoms and fever subsided, and the consolidation in his X-ray was significantly reduced by hospital day nine. The early administration of Cidofovir could be beneficial for the treatment of adenovirus infection in immunocompetent patients.

Effect of low tube voltage and low iodine concentration abdominal CT on image quality and radiation dose in children: preliminary study.

PURPOSE: To evaluate the image quality of a double-low protocol (low tube voltage and low iodine concentration) for abdominal CT in children. MATERIALS AND METHODS: The double-low protocol was compared to the conventional protocol in pediatric patients weighing less than 40 kg from May 2016 to December 2016. Double-low protocol (Group A, n = 18): tube voltage, 70 kVp; and iodine concentration,: 250 mgI/mL versus Conventional protocol (Group B, n = 13): tube voltage, 80-100 kVp; and iodine concentration, 350 mgI/mL. Mean attenuation, noise, signal-to-noise ratio (SNR), and contrast-to-noise ratio (CNR) were compared between the two groups. Image contrast, noise, beam-hardening artifacts, and overall image quality were subjectively scored. Reader performance for correctly differentiating two groups by visual assessment was evaluated. Radiation dose and total iodine load were recorded. RESULTS: The mean attenuations of the portal vein and liver and the mean image noise in Group A were higher than in Group B (p = 0.04, 0.03, 0.004, respectively). The mean SNR and CNR of the main portal vein and liver were lower in Group A without any statistically significant difference. There were no statistically significant differences between the two groups in qualitative analysis (image contrast, image noise, and overall image quality) with substantial agreement between the reviewers (weighted kappa values; 0.59-0.76). Significantly diminished radiation dose and iodine load were observed in Group A compared with Group B (25.0%, 36.8% reduction; p = 0.007, 0.006, respectively). CONCLUSION: The double-low protocol was feasible for pediatric abdominal CT and reduced both radiation dose and iodine load, while maintaining image quality.

Antibiotics-Associated Hemorrhagic Colitis Caused by Klebsiella oxytoca: Two Case Reports.

Nowadays, Klebsiella oxytoca is described as a causative organism for antibiotic-associated hemorrhagic colitis (AAHC). Here we report two cases of pediatric AAHC, from which K. oxytoca was cultured after starting amoxicillin-clavulanate or amoxicillin treatment. The patients developed severe abdominal pain and a large amount of bloody diarrhea. K. oxytoca was obtained in intestinal fluid culture of a boy through the colonoscopy. On the other hand, colonic tissue culture and intestinal fluid culture were negative of the other patient. K. oxytoca was detected in stool culture when he was admitted. These cases showed characteristic endoscopic findings of segmental hemorrhagic colitis, and both boys recovered spontaneously within 2-3 days after they stopped taking the antibiotics. Therefore, in children who develop relatively large amount of bloody diarrhea after antibiotic treatment, we should consider AAHC caused by K. oxytoca.

Prediction of High-grade Vesicoureteral Reflux in Children Younger Than 2 Years Using Renal Sonography: A Preliminary Study.

OBJECTIVES: To investigate the predictive value of renal sonography for vesicoureteral reflux (VUR) and the efficacy of renal sonography, technetium Tc 99m-labeled dimercaptosuccinic acid (DMSA) scanning, and a combination of the two for VUR screening in children younger than 2 years with a first episode of febrile urinary tract infection. METHODS: Thirty-eight patients younger than 2 years with a first febrile urinary tract infection were included in our study, which was conducted from April through October 2014. Each kidney was considered a separate renal unit. A retrospective review of clinical information and images (renal sonography, DMSA scanning, and voiding cystourethrography) was performed. RESULTS: Of the 14 renal units (18.4%) with VUR, 4 (28.5%) had high-grade VUR. Among single findings, dilatation of the renal collecting system, wall thickening of the renal collecting system, and DMSA scans significantly predicted VUR (P= .038, .027, and .01, respectively). Dilatation was the most common single finding (46 of 76 renal units). The sensitivity values for dilatation, wall thickening, and DMSA scans were 85.7%, 64.2%, and 50.0%, and the negative predictive values were 93.3%, 89.7%, and 87.9%. CONCLUSIONS: The negative predictive values indicate that normal renal sonographic and DMSA findings can predict the absence of high-grade VUR. We propose that renal sonographic findings of wall thickening as well as dilatation of the renal collecting system should be considered predictive of high-grade VUR.

Ultrasonography evaluation of infants with Alagille syndrome: In comparison with biliary atresia and neonatal hepatitis.

OBJECTIVE: To evaluate the ultrasonography (US) features of Alagille syndrome (ALGS), as compared with biliary atresia (BA) or neonatal hepatitis (NH). METHODS: Our study included 23 ALGS, 75 BA and 70 NH patients. The initial US images were retrospectively reviewed for gallbladder (GB) morphology with systemic classification, GB length and luminal area, presence of triangular-cord (TC) sign and hypertrophied hepatic-artery. The presence of anomalies associated with ALGS was evaluated. The diagnostic values of each finding and their combinations were evaluated. RESULTS: Both ALGS (57%) and BA (79%) were more frequently associated with abnormal GB shapes than NH (19%, all P<0.001). The short and small GBs were more frequently observed in ALGS and BA than in NH (all P<0.001). None in the ALGS and NH showed TC sign, while 41% in the BA did (all P<0.001). Hypertrophied hepatic-artery was noted less frequently in both ALGS (13%) and NH (14%) than in BA (83%, all P<0.001). The combination of US criteria with associated anomalies increased the positive-predictive-value for ALGS. CONCLUSION: Abnormal shaped GB with absence of the TC sign and hypertrophied hepatic-artery and presence of associated anomalies can be a differential point of ALGS.

Free-Breathing Radial 3D Fat-Suppressed T1-Weighted Gradient-Echo Sequence for Contrast-Enhanced Pediatric Spinal Imaging: Comparison With T1-Weighted Turbo Spin-Echo Sequence.

OBJECTIVE: The purpose of this study was to compare free-breathing radially sampled 3D T1-weighted gradient-echo acquisitions (radial volumetric interpolated breath-hold examination [VIBE]) with a T1-weighted turbo spin-echo (TSE) sequence for contrast-enhanced spinal imaging of children with CNS tumors. MATERIALS AND METHODS: Twenty-eight consecutively registered children with CNS tumors underwent evaluation of leptomeningeal seeding with 1.5-T MRI that included both radial VIBE and T1-weighted TSE sequences. For qualitative analysis, overall image quality; presence of motion, CSF flow, and radial artifacts; and lesion conspicuity were retrospectively assessed with scoring systems. The signal-intensity uniformity of each sequence was evaluated for quantitative comparison. The acquisition times for each sequence were compared. RESULTS: Images obtained with the radial VIBE sequence had a higher overall image quality score than did T1-weighted TSE images (3.61 ± 0.73 vs 2.80 ± 0.69, p < 0.001) and lower motion artifact (0.82 ± 0.43 vs 1.29 ± 0.56, p = 0.001) and CSF flow artifact (0 vs 1.68 ± 0.67, p < 0.001) scores. Radial artifacts were found only on radial VIBE images (1.36 ± 0.31 vs 0, p < 0.001). In 13 patients with spinal seeding nodules, radial VIBE images showed greater lesion conspicuity than did T1-weighted TSE images (4.23 ± 0.52 vs 2.47 ± 0.57, p = 0.005). Radial VIBE images had diminished signal-intensity variation compared with T1-weighted TSE images in air, spine, and muscle (p < 0.01). The mean acquisition times were not significantly different between the two sequences (p = 0.117). CONCLUSION: For pediatric spinal imaging, radial VIBE images had better image quality and lesion conspicuity and fewer CSF and respiratory motion artifacts than did T1-weighted TSE images in a similar acquisition time.

Prediction of High-grade Vesicoureteral Reflux in Children Younger Than 2 Years Using Renal Sonography.

OBJECTIVES: To investigate the predictive value of renal sonography for vesicoureteral reflux (VUR) and the efficacy of renal sonography, technetium Tc 99m­labeled dimercaptosuccinic acid (DMSA) scanning, and a combination of the two for VUR screening in children younger than 2 years with a first episode of febrile urinary tract infection. METHODS: Thirty-eight patients younger than 2 years with a first febrile urinary tract infection were included in our study, which was conducted from April through October 2014. Each kidney was considered a separate renal unit. A retrospective review of clinical information and images (renal sonography, DMSA scanning, and voiding cystourethrography) was performed. RESULTS: Of the 14 renal units (18.4%) with VUR, 4 (28.5%) had high-grade VUR. Among single findings, dilatation of the renal collecting system, wall thickening of the renal collecting system, and DMSA scans significantly predicted VUR (P= .038, .027, and .01, respectively). Dilatation was the most common single finding (46 of 76 renal units). The sensitivity values for dilatation, wall thickening, and DMSA scans were 85.7%, 64.2%, and 50.0%, and the negative predictive values were 93.3%, 89.7%, and 87.9%. CONCLUSIONS: The negative predictive values indicate that normal renal sonographic and DMSA findings can predict the absence of high-grade VUR. We propose that renal sonographic findings of wall thickening as well as dilatation of the renal collecting system should be considered predictive of high-grade VUR.

Early imaging findings in germ cell tumors arising from the basal ganglia.

BACKGROUND: It is difficult to diagnosis early stage germ cell tumors originating in the basal ganglia, but early recognition is important for better outcome. OBJECTIVE: To evaluate serial MR images of basal ganglia germ cell tumors, with emphasis on the features of early stage tumors. MATERIALS AND METHODS: We retrospectively reviewed serial MR images of 15 tumors in 14 children and young adults. We categorized MR images of the tumors as follows: type I, ill-defined patchy lesions (<3 cm) without cyst; type II, small mass lesions (<3 cm) with cyst; and type III, large lesions (≥3 cm) with cyst. We also assessed temporal changes of the MR images. RESULTS: On the initial images, 8 of 11 (73%) type I tumors progressed to types II or III, and 3 of 4 (75%) type II tumors progressed to type III. The remaining 4 tumors did not change in type. All type II tumors (5/5, 100%) that changed from type I had a few tiny cysts. Intratumoral hemorrhage was observed even in the type I tumor. Ipsilateral hemiatrophy was observed in most of the tumors (13/15, 87%) on initial MR images. As tumors grew, cystic changes, intratumoral hemorrhage, and ipsilateral hemiatrophy became more apparent. CONCLUSION: Early stage basal ganglia germ cell tumors appear as ill-defined small patchy hyperintense lesions without cysts on T2-weighted images, are frequently associated with ipsilateral hemiatrophy, and sometimes show microhemorrhage. Tumors develop tiny cysts at a relatively early stage.

Comparison of Image Quality and Radiation Dose between High-Pitch Mode and Low-Pitch Mode Spiral Chest CT in Small Uncooperative Children: The Effect of Respiratory Rate.

OBJECTIVES: To compare image quality and radiation dose between high-pitch mode (HPM) and low-pitch mode (LPM) CT in young children. MATERIALS AND METHODS: Forty-seven children (mean age 35.6 months; range, 0-126 months) underwent 49 CT examinations in HPM or LPM and were divided into high or low respiratory rate (RR) groups. A qualitative image quality was compared between the two modes. The volume CT dose index (CTDIvol) and dose-length product (DLP) were evaluated from the dose reports, and effective doses were assessed using a paediatric phantom. RESULTS: Image quality was generally better for HPM than LPM (diagnostic acceptance score, 4.00 vs. 3.46, P = 0.004); the difference was more prominent in the high RR group (4.00 vs. 3.22, P = 0.001). However, there was no significant difference in the low RR group. The mean DLP value was higher in HPM than LPM (29.48 mGy · cm vs. 23.46 mGy · cm, P = 0.022), while CTDIvol was not significantly different. The total effective radiation dose was 26 % higher in HPM than LPM (1.82 mSv vs. 1.44 mSv). CONCLUSIONS: LPM can be considered for paediatric lung evaluation in young children with low RRs to reduce radiation dose while maintaining favourable image quality. KEY POINTS: • Radiation exposure is higher on high-pitch "Flash spiral mode" than on low-pitch "X-CARE mode". • "Flash spiral mode" generally showed better image quality than "X-CARE mode". • Difference in image quality was more prominent in the high RR group. • There was no difference in image quality in the low RR group. • "X-CARE mode" should be considered in a limited population with low RRs.

Ultrasound-guided contrast enema for meconium obstruction in very low birth weight infants: Factors that affect treatment success.

INTRODUCTION: This study aimed to assess the therapeutic results of ultrasound (US)-guided water-soluble contrast enema in very low birth weight (VLBW) preterm infants (<1,500 g) with meconium obstruction and to study factors that affect therapeutic results. METHODS: This study included a total of 33 consecutive VLBW infants with clinically diagnosed meconium obstruction underwent US-guided water-soluble contrast enema, from April 2007 to March 2014. Patients were classified into two groups based on to procedure outcome: the success group (evacuation of the meconium plug resolution followed by improved bowel distention within 2 days of the procedure, without additional interventions), and the failure group (the contrast enema failed to relieve the obstruction, or other procedure-related complications occurred). Patient- and mother-related clinical factors and procedure-related factors were compared between both groups. RESULTS: Overall success rate was 54.5%, with 18 successful (M:F=10:8), and 15 failure (M:F=7:8) cases. When compared with the failure group, the success group patients showed statistically significant older gestational age (29(+1) vs. 27 weeks; p=0.028), larger birth weight (1023.1g vs. 790.3g; p=0.048), and higher body weight on the day of the procedure (1036.2g vs. 801.6g, p=0.049). However, no statistically significant differences were seen between other patient and maternal factors. Among the procedure-related factors, retrial of contrast injection during the procedure was associated with significantly higher success than the single trial (p=0.027). The presence of refluxed contrast into the distal ileum was the statistically significant predictor for success of the procedure (p=0.038). There were three cases of bowel perforation (9.1% per person). CONCLUSION: US-guided water-soluble contrast enema in VLBW infants with meconium obstruction showed a 54.5% success rate and a 9.1% perforation rate per person. Among the procedure-related factors, retrial of contrast injection during the procedure and the presence of refluxed contrast into the distal ileum were related to the success of the procedure.

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.

Schmid-type metaphyseal chondrodysplasia (MCDS) is characterized by short stature with short legs, bowing of the long bones, coxa vara, and waddling gait. MCDS is a relatively common form of MCD. Most mutations that cause MCDS occur within the carboxyl-terminal non-collagenous domain (NC1) of the COL10A1 gene. We performed mutational analysis of the COL10A1 genes in 4 unrelated Korean patients with diagnosed MCDS. Mutational analysis of COL10A1 identified c.1904_1915delinsT (p.Gln635LeufsX10) and c.1969dupG (p.Ala657GlyfsX10), 2 novel frameshift mutations, and c.2030T>A (p.Val677Glu) and c.862G>C (p.Gly288Arg) at unusual mutational sites, which could be pathogenic. We present the first report of the molecular characteristics of MCDS in 4 Korean patients. Our findings suggest that a novel sequence variation involving an unusual mutational site of the COL10A1 gene can cause mild MCDS.

Dual-energy CT in the assessment of mediastinal lymph nodes: comparative study of virtual non-contrast and true non-contrast images.

OBJECTIVE: To evaluate the reliability of virtual non-contrast (VNC) images reconstructed from contrast-enhanced, dual-energy scans compared with true non-contrast (TNC) images in the assessment of high CT attenuation or calcification of mediastinal lymph nodes. MATERIALS AND METHODS: A total of 112 mediastinal nodes from 45 patients who underwent non-contrast and dual-energy contrast-enhanced scans were analyzed. Node attenuation in TNC and VNC images was compared both objectively, using computed tomography (CT) attenuation, and subjectively, via visual scoring (0, attenuation ≤ the aorta; 1, > the aorta; 2, calcification). The relationship among attenuation difference between TNC and VNC images, CT attenuation in TNC images, and net contrast enhancement (NCE) was analyzed. RESULTS: CT attenuation in TNC and VNC images showed moderate agreement (intraclass correlation coefficient, 0.612). The mean absolute difference was 7.8 ± 7.6 Hounsfield unit (HU) (range, 0-36 HU), and the absolute difference was equal to or less than 10 HU in 65.2% of cases (73/112). Visual scores in TNC and VNC images showed fair agreement (κ value, 0.335). Five of 16 nodes (31.3%) which showed score 1 (n = 15) or 2 (n = 1) in TNC images demonstrated score 1 in VNC images. The TNC-VNC attenuation difference showed a moderate positive correlation with CT attenuation in TNC images (partial correlation coefficient [PCC] adjusted by NCE: 0.455) and a weak negative correlation with NCE (PCC adjusted by CT attenuation in TNC: -0.245). CONCLUSION: VNC images may be useful in the evaluation of mediastinal lymph nodes by providing additional information of high CT attenuation of nodes, although it is underestimated compared with TNC images.