Gastrointestinal involvement of passenger lymphocyte syndrome followed by minor ABO-incompatible renal transplantation: A case report.

BACKGROUND: People with group O blood are considered universal organ donors compatible with any other blood group. However, in the case of minor ABO-incompatible transplantation, immune-mediated hemolysis may occur due to concomitant transfer of donor B lymphocytes together with the allograft. These passenger lymphocytes can produce antibodies in the recipients erythrocytes, causing hemolytic anemia known as passenger lymphocyte syndrome (PLS). METHODS: A retrospective chart review was performed. RESULTS: A 6-year-old boy (A+) underwent transplantation of a kidney from his father (O+). On postoperative day (POD) 6, the patient developed fever with no explainable causes. On POD 11, he presented with abdominal pain, hematochezia, and severe diarrhea, with sudden hemolytic anemia. Since then, GI symptoms have continued. On POD 20, direct antiglobulin test (DAT) was positive, and the anti-A IgM/G titer was 2/32. The results of the anti-A antibody elution test were strongly positive (3+). These findings highly suggested PLS. On the same day, the GI symptoms suddenly worsened, and laboratory findings showed hemolysis and thrombocytopenia with disseminated intravascular coagulation (DIC). Abdominal computed tomography (CT) scans suggested ischemic colitis of venous origin, and the patient underwent segmental colectomy with ileostomy formation on POD 23. To remove the anti-A antibodies, the patient underwent therapeutic plasma exchange (TPE) five times until the DAT and anti-A elution test were negative. CONCLUSIONS: We report a case of gastrointestinal involvement of PLS that occurred after minor ABO-incompatible kidney transplantation. This is the first report of ischemic colitis as an atypical manifestation of PLS.

Impact of 3-second rule for high confidence assignment on the performance of endoscopists for the real-time optical diagnosis of colorectal polyps.

BACKGROUND: Confusion between high and low confidence decisions in optical diagnosis hinders the implementation of real-time optical diagnosis in clinical practice. We evaluated the effect of a 3-second rule (decision time limited to 3 seconds for a high confidence assignment) in expert and nonexpert endoscopists. METHODS: This single-center prospective study included eight board-certified gastroenterologists. A 2-month baseline phase used standard real-time optical diagnosis for colorectal polyps < 10 mm and was followed by a 6-month intervention phase using optical diagnosis with the 3-second rule. Performance, including high confidence accuracy, and Preservation and Incorporation of Valuable Endoscopic Innovations (PIVI) and Simple Optical Diagnosis Accuracy (SODA) thresholds, was measured. RESULTS: Real-time optical diagnosis was performed on 1793 patients with 3694 polyps. There was significant improvement in high confidence accuracy between baseline and intervention phases in the nonexpert group (79.2 % vs. 86.3 %; P = 0.01) but not in the expert group (85.3 % vs. 87.5 %; P = 0.53). Using the 3-second rule improved the overall performance of PIVI and SODA in both groups. CONCLUSIONS: The 3-second rule was effective in improving real-time optical diagnosis performance, especially in nonexperts.

Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.

The genotype-phenotype correlation of the X-linked Alport syndrome (XLAS) has been well elucidated in males, whereas it remains unclear in females. In this multicenter retrospective study, we analyzed the genotype-phenotype correlation in 216 Korean patients (male:female = 130:86) with XLAS between 2000 and 2021. The patients were divided into three groups according to their genotypes: the non-truncating group, the abnormal splicing group, and the truncating group. In male patients, approximately 60% developed kidney failure at the median age of 25.0 years, and kidney survival showed significant differences between the non-truncating and truncating groups (P < 0.001, hazard ratio (HR) 2.8) and splicing and truncating groups (P = 0.002, HR 3.1). Sensorineural hearing loss was detected in 65.1% of male patients, while hearing survival periods showed a highly significant difference between the non-truncating and truncating groups (P < 0.001, HR 5.1). In female patients, approximately 20% developed kidney failure at the median age of 50.2 years. The kidney survival was significantly different between the non-truncating and truncating groups (P = 0.006, HR 5.7). Our findings support the presence of genotype-phenotype correlation not only in male patients but also in female patients with XLAS.

Contrast-enhanced ultrasound for the diagnosis of acute pyelonephritis in pediatric patients with urinary tract infection: A feasibility study.

PURPOSE: This study aimed to assess the feasibility of contrast-enhanced ultrasound (CEUS) for the diagnosis of acute pyelonephritis (APN) in pediatric patients with febrile urinary tract infection (UTI). MATERIALS AND METHODS: Between March 2019 and January 2021, study participants with suspected UTI were assessed for APN using ultrasound. Parenchymal echogenicity changes, renal pelvis dilatation, and the presence of a focal suspected lesion were assessed using conventional grayscale ultrasound. The presence and location of a decreased perfusion area were evaluated using color Doppler ultrasound (CDUS) and CEUS. Agreement between each ultrasound examination and a 99mTc‒dimercaptosuccinic acid (DMSA) scan was assessed using the κ value, and the most visible period of the lesion was evaluated using CEUS. RESULTS: This study enrolled 21 participants (median age, 8.0 months; range, 2.0-61.0 months) with isolated urinary tract pathogens. Five increased parenchymal echotextures (11.9%) and 14 renal pelvic dilatations (33.3%) were confirmed, but no focal lesions were detected on the grayscale images. CDUS and CEUS showed decreased local perfusion suggestive of APN in two and five kidneys, respectively. DMSA scan showed substantial agreement with CEUS findings (κ = 0.80, P = 0.010), but other grayscale and CDUS findings did not agree with DMSA scan results (P > 0.05). All lesions were best observed in the late parenchymal phase on CEUS. CONCLUSION: CEUS can reveal renal perfusion defects in pediatric patients with suspected APN without radiation exposure or sedation; therefore, CEUS may be a feasible and valuable diagnostic technique.

Preventive effect of Helicobacter pylori eradication on the coronary heart diseases depending on age and sex with a median follow-up of 51 months.

BACKGROUND: The association between Helicobacter pylori (HP) infection and coronary heart disease (CHD) is controversial. This study aimed to investigate the effect of H. pylori eradication on CHD, especially in terms of age and sex. MATERIALS AND METHODS: From May 2003 to March 2022, 4765 subjects with H. pylori infection and without CHD (median follow-up: 51 months) were prospectively enrolled. The participants were categorized into two groups: H. pylori eradication and H. pylori non-eradication. After propensity-score matching (PSM), the effect of H. pylori eradication on CHD was analyzed using Cox proportional hazards. RESULTS: There were no significant differences in age, sex, alcohol consumption, smoking habits, history of diabetes, hypertension, and dyslipidemia, and aspirin intake between the eradication and non-eradication groups (3783 vs. 982) before and after PSM. Multivariate analysis after PSM showed that H. pylori eradication (HR: 0.489, CI: 0.314-0.761, p = .002), age (HR: 1.027, CI: 1.007-1.047, p = .007), hypertension (HR: 2.133, CI: 1.337-3.404, p = 001), dyslipidemia (HR: 1.758, CI: 1.086-2.848, p = .022), and aspirin intake (HR: 2.508, CI: 1.566-4.017, p < .001) were associated with CHD development. H. pylori eradication prevented CHD in males ≤65 years (HR: 0.133, CI: 0.039-0.455, p = .001), but not in those aged >65 years (p = .078) (p for interaction = .022). In contrast, females aged >65 years (HR: 0.260, CI: 0.110-0.615, p = .002) were protected by H. pylori eradication and not those ≤65 years (p = .485) (p for interaction = .003). This preventive effect increased more after PSM, particularly in males ≤65 years and females >65 years. CONCLUSIONS: H. pylori eradication prevented CHD and this effect was different depending on age and sex.

Long-term Effects of the Eradication of Helicobacter pylori on Metabolic Parameters, Depending on Sex, in South Korea.

Background/Aims: Helicobacter pylori (HP) infection is positively associated with metabolic syndrome (MS). However, the long-term effects of eradication therapy on MS and sex differences have not been thoroughly studied. We aimed to investigate the long-term effects of HP eradication on MS and sex differences. Methods: This study included 2,267 subjects who visited a tertiary referral center between May 2003 and May 2019. HP was diagnosed by histology, a Campylobacter-like organism test, and culture, and the subjects were prospectively followed up. The participants were categorized into three groups: HP uninfected, HP infected but non-eradicated, and HP eradicated. The baseline characteristics and changes in metabolic parameters after HP eradication were compared over a 5-year follow-up period. Results: Among 1,521 subjects, there was no difference in baseline metabolic parameters between the HP-uninfected (n=509) and HP-infected (n=1,012) groups, regardless of sex. Analysis of the metabolic parameters during follow-up among HP-uninfected (n=509), HP-non-eradicated (n=346), and HP-eradicated (n=666) groups showed that high-density lipoprotein (HDL) and the body mass index (BMI) increased after eradication, with a significant difference at 1-year of follow-up. In females, HDL increased after eradication (p=0.023), and the BMI increased after eradication in male subjects (p=0.010). After propensity score matching, the HDL change in female remained significant, but the statistical significance of the change in BMI in the male group became marginally significant (p=0.089). Conclusions: HP eradication affected metabolic parameters differently depending on sex. HDL significantly increased only in females over time, especially at 1-year of follow-up. In contrast, BMI showed an increasing tendency over time in males, especially at the 1-year follow-up.

Visceral Obesity Is a More Important Factor for Colorectal Adenomas than Skeletal Muscle or Body Fat.

OBJECTIVE: Although the incidence of colorectal adenomas increases with obesity, the role of various body compositions is still unknown. We aimed to determine which body composition best reflects the risk of colorectal adenomas. METHODS: Patients aged 50-75 years who underwent colonoscopy and a bioelectrical impedance analysis (BIA) for a health check-up from 2017 to 2019 were retrospectively enrolled. The skeletal muscle index (SMI), fat mass index (FMI), and visceral fat index (VFI) were obtained using BIA. The muscle-to-fat ratio (MFR) and the skeletal muscle mass to visceral fat area ratio (SVR) were calculated. RESULTS: Among 15,102 patients, 6605 (43.7%) had adenomas. SMI, FMI, MFR, VFI, and SVR were all associated with the risk of adenomas and high-risk adenomas in the age- and sex-adjusted model. When further adjusted for metabolic and lifestyle factors, VFI was the only factor significantly associated with the risk of colorectal adenomas and high-risk adenomas (adenomas: odds ratio (OR) 1.40, 95% confidence interval (CI) 1.22-1.61; high-risk adenomas: OR 1.47, 95% CI 1.16-1.87, for the highest quartile). CONCLUSION: Among the various body indices, VFI was the most important index associated with the development of colorectal adenoma. More attention should be paid to visceral fat when predicting the risk of colorectal adenomas.

Network Analysis of Cardiac Remodeling by Primary Mitral Regurgitation Emphasizes the Role of Diastolic Function.

BACKGROUND: Topological data analysis (TDA) can generate patient-patient similarity networks by analyzing large, complex data and derive new insights that may not be possible with standard statistics. OBJECTIVES: The purpose of this paper was to discover novel phenotypes of chronic primary mitral regurgitation (MR) patients and to analyze their clinical implications using network analysis of echocardiographic data. METHODS: Patients with chronic moderate to severe primary MR were prospectively enrolled from 11 Asian tertiary hospitals (n = 850; mean age 56.9 ± 14.2 years, 57.9% men). We performed TDA to generate network models using 14 demographic and echocardiographic variables. The patients were grouped by phenotypes in the network, and the prognosis was compared by groups. RESULTS: The network model by TDA revealed 3 distinct phenogroups. Group A was the youngest with fewer comorbidities but increased left ventricular (LV) end-systolic volume, representing compensatory LV dilation commonly seen in chronic primary MR. Group B was the oldest with high blood pressure and a predominant diastolic dysfunction but relatively preserved LV size, an unnoticed phenotype in chronic primary MR. Group C showed advanced LV remodeling with impaired systolic, diastolic function, and LV dilation, indicating advanced chronic primary MR. During follow-up (median 3.5 years), 60 patients received surgery for symptomatic MR or died of cardiovascular causes. Kaplan-Meier curves demonstrated that although group C had the worst clinical outcome (P < 0.001), group B, characterized by diastolic dysfunction, had an event-free survival comparable to group A despite preserved LV chamber size. The grouping information by the network model was an independent predictor for the composite of MR surgery or cardiovascular death (adjusted HR: 1.918; 95% CI: 1.257-2.927; P = 0.003). CONCLUSIONS: The patient-patient similarity network by TDA visualized diverse remodeling patterns in chronic primary MR and revealed distinct phenotypes not emphasized currently. Importantly, diastolic dysfunction deserves equal attention when understanding the clinical presentation of chronic primary MR.

Non-alcoholic/Metabolic-Associated Fatty Liver Disease and Helicobacter pylori Additively Increase the Risk of Arterial Stiffness.

Background: Non-alcoholic fatty liver disease (NAFLD) and Helicobacter pylori (Hp) infection have a close association with an increased risk of cardiovascular disease. Metabolic dysfunction-associated fatty liver disease (MAFLD) is characterized by metabolic dysfunction in NAFLD. We investigated the synergistic effects of NAFLD/MAFLD and Hp infection on the risk of arterial stiffness in an asymptomatic population. Methods: We included individuals who underwent abdominal ultrasonography, anti-Hp IgG antibody evaluations and cardio-ankle vascular index (CAVI) during health screening tests between January 2013 and December 2017. Arterial stiffness was defined using CAVI. A logistic regression model was used to analyze the independent and synergistic effects of NAFLD/MAFLD and Hp infection on the risk of arterial stiffness. Results: Among 3,195 subjects (mean age 54.7 years, 68.5% male), the prevalence of increased arterial stiffness was 36.4%. In the multivariate analysis, subjects with NAFLD but without Hp infection and those with both NAFLD and Hp infection had a significantly higher risk of increased arterial stiffness [odds ratio (OR) 1.61, 95% confidence interval (CI) 1.15-2.26, and OR 2.23, 95% CI 1.63-3.06, respectively], than subjects without Hp infection and NAFLD. Regarding MAFLD, Hp infection additively increased the risk of arterial stiffness in subjects with MAFLD (OR 2.13, 95% CI 1.64-2.78). Conclusions: An interactive effect of Hp infection on the risk of arterial stiffness in individuals with NAFLD/MAFLD was observed. Hp infection additively increases the risk of arterial stiffness in subjects with NAFLD or MAFLD.

Colonoscopic image synthesis with generative adversarial network for enhanced detection of sessile serrated lesions using convolutional neural network.

Computer-aided detection (CADe) systems have been actively researched for polyp detection in colonoscopy. To be an effective system, it is important to detect additional polyps that may be easily missed by endoscopists. Sessile serrated lesions (SSLs) are a precursor to colorectal cancer with a relatively higher miss rate, owing to their flat and subtle morphology. Colonoscopy CADe systems could help endoscopists; however, the current systems exhibit a very low performance for detecting SSLs. We propose a polyp detection system that reflects the morphological characteristics of SSLs to detect unrecognized or easily missed polyps. To develop a well-trained system with imbalanced polyp data, a generative adversarial network (GAN) was used to synthesize high-resolution whole endoscopic images, including SSL. Quantitative and qualitative evaluations on GAN-synthesized images ensure that synthetic images are realistic and include SSL endoscopic features. Moreover, traditional augmentation methods were used to compare the efficacy of the GAN augmentation method. The CADe system augmented with GAN synthesized images showed a 17.5% improvement in sensitivity on SSLs. Consequently, we verified the potential of the GAN to synthesize high-resolution images with endoscopic features and the proposed system was found to be effective in detecting easily missed polyps during a colonoscopy.

Long-term effect of the eradication of Helicobacter pylori on the hemoglobin A1c in type 2 diabetes or prediabetes patients.

BACKGROUND/AIMS: The long-term effect of Helicobacter pylori eradication on the metabolic syndrome or diabetes are unclear. The aim of this study was to evaluate the effect of H. pylori eradication on glycemic control in type 2 diabetes mellitus (T2DM) or prediabetes mellitus (preDM). METHODS: A total of 124 asymptomatic subjects with T2DM or preDM were divided into H. pylori-negative (n = 40), H. pylori-positive with non-eradicated (n = 34), and eradicated (n = 50) groups. We measured H. pylori status (culture, histology, and rapid urease test) and glycated hemoglobin A1c (A1C) levels and followed-up at the 1st year and the 5th year of follow-up. RESULTS: The A1C levels significantly decreased in the eradicated group compared to the negative group and the non-eradicated groups (at the 1st year, p = 0.024; at the 5th year, p = 0.009). The A1C levels decreased in male, and/or subjects < 65 years of age in subgroup analyses (in male subjects, p = 0.047 and p = 0.020 at the 1st and the 5th year; in subjects < 65 years of age, p = 0.028 and p = 0.006 at the 1st and the 5th year; in male subjects < 65 years of age, p = 0.039 and p = 0.032 at the 1st and the 5th year). The eradication of H. pylori was related to the decrease in A1C values throughout the follow-up period, compared to the non-eradicated group (p = 0.017). CONCLUSION: H. pylori eradication was related to the decreasing of A1C levels in patients with T2DM or preDM over a long-term follow-up period, especially in male and subjects < 65 years of age.

Impact of comprehensive optical diagnosis training using Workgroup serrAted polypS and Polyposis classification on detection of adenoma and sessile serrated lesion.

OBJECTIVES: Many interventions have been attempted to improve adenoma detection rate (ADR) and sessile serrated lesion detection rate (SDR), and one of these interventions is educational training to recognize polyp characteristics. This study aimed to investigate the change in polyp detection rates of endoscopists before and after comprehensive training through the Gangnam-Real Time Optical Diagnosis (Gangnam-READI) program. METHODS: Fifteen gastroenterologists participated in a 1-year comprehensive training program that consisted of ex vivo and in vivo training that encompasses knowledge and skills in endoscopic characterization of colonic polyps using the Workgroup serrAted polypS and Polyposis (WASP) classification. We evaluated the impact of the training program by comparing the overall and individual ADR and SDR 6 months before and after the training. RESULTS: Overall, 18,280 polyps (9337 adenomas and 855 sessile serrated lesion) were collected. The optical diagnosis training had no significant impact on the difference in ADR after training compared to before training (47.7% vs. 46.5%, P = 0.608). A tendency for a decrease in ADR variance was noted among the endoscopists after training (74.9 vs. 32.7, P = 0.121). The overall pre-training period SDR was 4.5% and showed a statistically significant increase to 5.6%, 8.0%, and 7.1% in the first and second half of the training period, and post-training period, respectively (P = 0.003). The optical diagnosis training did not decrease variance in SDR (8.9 vs. 8.8, P = 0.985). CONCLUSION: Comprehensive optical diagnosis training with WASP classification has a significant impact on increasing the overall SDR of expert endoscopists.

Blood pressure measurements and hypertension in infants, children, and adolescents: from the postmercury to mobile devices.

A mercury sphygmomanometer (MS) has been the gold standard for pediatric blood pressure (BP) measurements, and diagnosing hypertension is critical. However, because of environmental issues, other alternatives are needed. Noninvasive BP measurement devices are largely divided into auscultatory and oscillometric types. The aneroid sphygmomanometer, the currently used auscultatory method, is inferior to MS in terms of limitations such as validation and regular calibration and difficult to apply to infants, in whom Korotkoff sounds are not audible. The oscillometric method uses an automatic device that eliminates errors caused by human observers and has the advantage of being easy to use; however, owing to its measurement accuracy issues, the development of an international validation protocol for children is important. The hybrid method, which combines the auscultatory and electronic methods, solves some of these problems by eliminating the observer bias of terminal digit preference while maintaining measurement accuracy; however, the auscultatory method remains limited. As the age-related characteristics of the pediatric group are heterogeneous, it is necessary to reconsider the appropriate BP measurement method suitable for this indication. In addition, the mobile application-based BP measurement market is growing rapidly with the development of smartphone applications. Although more research is still needed on their accuracy, many experts expect that mobile application-based BP measurement will effectively reduce medical costs due to increased ease of access and early BP management.

Risk Factors for High-Risk Adenoma on the First Lifetime Colonoscopy Using Decision Tree Method: A Cross-Sectional Study in 6,047 Asymptomatic Koreans.

Background/Aims: As risk of colorectal neoplasm is varied even in persons with "average-risk," risk evaluation and tailored screening are needed. This study aimed to evaluate the risk factors of high-risk adenoma (HRA) in healthy individuals and determine the characteristics of advanced neoplasia (AN) among individual polyps. Methods: Asymptomatic adults who underwent the first lifetime screening colonoscopy at the Seoul National University Hospital Healthcare System Gangnam Center (SNUH GC) were recruited from 2004 to 2007 as SNUH GC Cohort and were followed for 10 years. Demographic and clinical characteristics were compared between the subjects with and without AN (≥10 mm in size, villous component, and/or high-grade dysplasia and/or cancer) or HRA (AN and/or 3 or more adenomas). For individual polyps, correlations between clinical or endoscopic features and histologic grades were evaluated using a decision tree method. Results: A total of 6,047 subjects were included and 5,621 polyps were found in 2,604 (43%) subjects. Advanced age, male sex, and current smoking status were statistically significant with regards to AN and HRA. A lower incidence of AN was observed in subjects taking aspirin. In the decision tree model, the location, shape, and size of the polyp, and sex of the subject were key predictors of the pathologic type. A weak but significant association was observed between the prediction of the final tree and the histological grouping (Kendall's tau-c = 0.142, p < 0001). Conclusions: Advanced neoplasia and HRA can be predicted using several individual characteristics and decision tree models.

The Risk of Colorectal Adenoma in Nonalcoholic or Metabolic-Associated Fatty Liver Disease.

Nonalcoholic fatty liver disease (NAFLD) is the most common cause of liver disease associated with various metabolic disorders. Metabolic dysfunction-associated fatty liver disease (MAFLD) emphasizes metabolic dysfunction in NAFLD. Although the relationship between NAFLD and colorectal adenomas has been suggested, the effect of MAFLD on colorectal adenoma has yet to be investigated. In this study, we examined the relationship between NAFLD/MAFLD and colorectal adenoma in comparison with other metabolic factors. METHODS: Examinees who underwent colonoscopy and abdominal ultrasonography on the same day from January 2012 to December 2012 were included. NAFLD was diagnosed according to the findings of ultrasonography. The Fibrosis-4 (FIB-4) index was used as a surrogate marker for advanced hepatic fibrosis. A logistic regression model was used to analyze the risk of NAFLD/MAFLD for colorectal adenoma. RESULTS: The prevalence of NAFLD and MAFLD was 37.5% and 32.8%, respectively. In the multivariate analysis, male sex, older age, diabetes, and smoking increased the risk of colorectal adenoma. NAFLD and MAFLD were the most important risk factors for colorectal adenoma only in females [adjusted odds ratio (OR) 1.43 and 95% confidence interval (CI) 1.01-2.03, and OR 1.55, 95% CI 1.09-2.20, respectively]. NAFLD and MAFLD with an advanced fibrosis index were significantly associated with an increased risk of colorectal adenoma. (NAFLD: OR 1.38, 95% CI, 1.04-1.83, p = 0.027; MAFLD: OR 1.45, 95% CI, 1.13-1.96, p = 0.004, respectively). CONCLUSION: NAFLD and MAFLD were significantly associated with a higher risk of colorectal adenomas, especially in females. NAFLD and MAFLD with advanced fibrosis were associated with an increased risk of colorectal adenoma. Colonoscopic examinations may be emphasized for patients with NAFLD/MAFLD, for women, or patients with the presence of hepatic fibrosis.

Genotype and Phenotype Analysis in X-Linked Hypophosphatemia.

Background: X-linked hypophosphatemia (XLH) is the most frequent form of hypophosphatemic rickets and is caused by mutations in the PHEX gene. We analyzed genotype-phenotype correlations in XLH patients with proven PHEX mutations. Methods: PHEX mutations were detected in 55 out of 81 patients who clinically presented with hypophosphatemic rickets. The patients were grouped into nontruncating (n = 9) and truncating (n = 46) mutation groups; their initial presentation as well as long-term clinical findings were evaluated according to these groups. Results: Initial findings, including presenting symptoms, onset age, height standard deviation scores (SDS), and laboratory tests, including serum phosphate level and tubular resorption of phosphate, were not significantly different between the two groups (onset age: nontruncating mutation group, 2.0 years, truncating mutation group, 2.2 years; height SDS: nontruncating mutation group, -1.9, truncating mutation group, -1.7; serum phosphate: nontruncating mutation group, 2.5 mg/dL, truncating mutation group, 2.6 mg/dL). However, at their last follow-up, the serum phosphate level was significantly lower in patients with truncating mutations (nontruncating mutation group: 3.2 mg/dl, truncating mutation group: 2.3 mg/dl; P = 0.006). Additionally, 62.5% of patients with truncating mutations developed nephrocalcinosis at their last follow-up, while none of the patients with nontruncating mutations developed nephrocalcinosis (P = 0.015). Orthopedic surgery due to bony deformations was performed significantly more often in patients with truncating mutations (52.3 vs. 10.0%, P = 0.019). Conclusion: Although considerable inconsistency exists regarding the correlation of truncating mutations and their disease phenotype in several other studies, we cautiously suggest that there would be genotype-phenotype correlation in some aspects of disease manifestation after long-term follow-up. This information can be used when consulting patients with confirmed XLH regarding their disease prognosis.

Contrast-enhanced voiding urosonography for the diagnosis of vesicoureteral reflux and intrarenal reflux: a comparison of diagnostic performance with fluoroscopic voiding cystourethrography.

PURPOSE: This study evaluated the diagnostic performance of contrast-enhanced voiding urosonography (ce-VUS) using a second-generation ultrasound contrast agent for the diagnosis of vesicoureteral reflux (VUR) and intrarenal reflux (IRR), and compared it with that of standard fluoroscopic voiding cystourethrography (VCUG). METHODS: Thirty-two consecutive children from April to October 2019 were included in this study. ce-VUS and VCUG were performed simultaneously by two operators with intravesical infusion of a mixture of ultrasound contrast medium, iodinated contrast medium and water. Two pediatric radiologists independently reviewed the ce-VUS and VCUG images and reported the presence and degree of VUR (grades I-V), and the presence and type of IRR. RESULTS: Twenty-seven of 63 urinary systems showed VUR. Interobserver agreement for VUR grading was very good for both examinations (κ=0.87; 95% confidence interval [CI], 0.82 to 0.92 for ce-VUS and κ=0.92; 95% CI, 0.87 to 0.96 for VCUG). The detection rate of VUR showed no significant difference between the two examinations (P=0.370). Four cases of VUR were missed on ce-VUS, while one case of VUR was missed on VCUG. All four false-negative cases on ce-VUS were grade 1 VUR. The two examinations showed very good agreement regarding VUR grading (κ =0.89; 95% CI, 0.81 to 0.96). IRR was more frequently detected with ce-VUS than with VCUG (10 cases with ce-VUS vs. 3 cases with VCUG, P=0.016). CONCLUSION: ce-VUS showed very good agreement with VCUG for detecting grade 2 VUR and above, while grade 1 VUR was sometimes missed with ce-VUS. IRR was more frequently detected with ce-VUS than with VCUG.

Increasing changes in visceral adiposity is associated with higher risk for colorectal adenoma: Multilevel analysis in a prospective cohort.

BACKGROUND AND AIM: While many studies demonstrated an association between visceral adiposity and colorectal adenoma (CRA), the effect of longitudinal changes in body fat composition on CRA is unclear. We investigated the longitudinal association between changes in visceral adiposity and CRA occurrence. METHODS: Between 2006 and 2018, 732 (62.8%) of the 1165 subjects in a prospective cohort voluntarily underwent follow-up abdominal fat computed tomography and colonoscopy. We defined incident and recurrent CRA as adenoma detected at follow-up colonoscopy from negative and positive adenoma at baseline colonoscopy, respectively. Multilevel survival analysis examined the longitudinal association between changes in visceral fat and CRA. RESULTS: During a median follow-up of 7.4 years, 400 (54.6%) subjects developed CRA. In multivariable analysis, increasing changes in visceral adipose tissue (VAT) area were associated with higher risk of incident adenoma (hazard ratio [HR] 1.21, 95% confidence interval [CI] 1.00-1.46 for change per 10 cm2 increase; HR 1.79, 95% CI 1.08-2.97 for highest vs lowest quartile, P values for trend = 0.045). Likewise, increasing changes in VAT area were independently associated with a higher risk of recurrent adenoma (HR 1.35, 95% CI 1.13-1.62 for change per 10 cm2 increase; HR 1.62, 95% CI 1.04-2.52 for highest vs lowest quartile, P values for trend = 0.001). Changes in subcutaneous adipose tissue area were not independently associated with CRA. CONCLUSION: Increasing changes in VAT area were longitudinally associated with a higher risk of incident and recurrent CRA, independent of risk factors, suggesting that visceral adiposity may be an important target in CRA prevention.