Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF.

PURPOSE: Patients with STAT1 gain-of-function (GOF) mutations often exhibit autoimmune features. The JAK1/2 inhibitor ruxolitinib can be administered to alleviate autoimmune symptoms; however, it is unclear how immune cells are molecularly changed by ruxolitinib treatment. Then, we aimed to investigate the trnscriptional and epigenetic status of immune cells before and after ruxolitinib treatment in a patient with STAT1 GOF. METHODS: A patient with a heterozygous STAT1 GOF variant (p.Ala267Val), exhibiting autoimmune features, was treated with ruxolitinib, and peripheral blood mononuclear cells (PBMCs) were longitudinally collected. PBMCs were transcriptionally analyzed by single-cell cellular indexing of the transcriptomes and epitopes by sequencing (CITE-seq), and epigenetically analyzed by assay of transposase-accessible chromatin sequencing (ATAC-seq). RESULTS: CITE-seq analysis revealed that before treatment, the patient's PBMCs exhibited aberrantly activated inflammatory features, especially IFN-related features. In particular, monocytes showed high expression levels of a subset of IFN-stimulated genes (ISGs). Ruxolitinib treatment substantially downregulated aberrantly overexpressed ISGs, and improved autoimmune features. However, epigenetic analysis demonstrated that genetic regions of ISGs-e.g., STAT1, IRF1, MX1, and OAS1-were highly accessible even after ruxolitinib treatment. When ruxolitinib was temporarily discontinued, the patient's autoimmune features were aggravated, which is in line with sustained epigenetic abnormality. CONCLUSIONS: In a patient with STAT1 GOF, ruxolitinib treatment improved autoimmune features and downregulated aberrantly overexpressed ISGs, but did not correct epigenetic abnormality of ISGs.

Acupuncture-Induced Abscess in the Retroperitoneal Cavity and Thigh Muscle: A Case Report.

Acupuncture is increasingly being used in Asian countries and is generally considered a relatively safe procedure. However, adverse events have been reported consistently. Therefore, clinicians should be aware of the possibility of acupuncture-related complications and should actively treat serious cases. We report a case of an acupuncture-induced large abscess in the retroperitoneal cavity and thigh muscles treated with percutaneous catheter drainage, surgical incision, and drainage.

Safety and efficacy of fluoroscopy-guided urethral catheterization in case of failed blind or cystoscopy-assisted urethral catheterization.

This retrospective study evaluated the safety and efficacy of fluoroscopy-guided urethral catheterization in patients who failed blind or cystoscopy-assisted urethral catheterization. We utilized our institutional database between January 2011 and March 2023, and patients with failed blind or cystoscopy-assisted urethral catheterization and subsequent fluoroscopy-guided urethral catheterization were included. A 5-Fr catheter was inserted into the urethral orifice, and the retrograde urethrography (RGU) was acquired. Subsequently, the operator attempted to pass a hydrophilic guidewire to the urethra. If the guidewire and guiding catheter could be successfully passed into the bladder, but the urethral catheter failed pass due to urethral stricture, the operator determined either attempted again with a reduced catheter diameter or performed balloon dilation according to their preference. Finally, an appropriately sized urethral catheter was selected, and an endhole was created using an 18-gauge needle. The catheter was then inserted over the wire to position the tip in the bladder lumen and ballooned to secure it. We reviewed patients' medical histories, the presence of hematuria, and RGU to determine urethral abnormalities. Procedure-related data were assessed. Study enrolled a total of 179 fluoroscopy-guided urethral catheterizations from 149 patients (all males; mean age, 73.3 ± 13.3 years). A total of 225 urethral strictures were confirmed in 141 patients, while eight patients had no strictures. Urethral rupture was confirmed in 62 patients, and hematuria occurred in 34 patients after blind or cystoscopy-assisted urethral catheterization failed. Technical and clinical success rates were 100%, and procedure-related complications were observed in four patients (2.2%). The mean time from request to urethral catheter insertion was 129.7 ± 127.8 min. The mean total fluoroscopy time was 3.5 ± 2.5 min and the mean total DAP was 25.4 ± 25.1 Gy cm2. Balloon dilation was performed in 77 patients. Total procedure time was 9.2 ± 7.6 min, and the mean procedure time without balloon dilation was 7.1 ± 5.7 min. Fluoroscopy-guided urethral catheterization is a safe and efficient alternative in patients where blind or cystoscopy-assisted urethral catheterization has failed or when cystoscopy-urethral catheterization cannot be performed.

Performance evaluation of the SMG HHV-6 Q Real-Time PCR Kit for quantitative detection and differentiation of human herpesvirus 6A and 6B.

The aim of this study was to compare the performance of the newly developed SMG HHV-6 Q Real-Time PCR Kit (SMG assay) with the RealStar HHV-6 PCR Kit (RealStar assay). The analytical sensitivity and specificity, linearity, and precision of the SMG assay were evaluated. The clinical performance of the SMG assay was assessed and compared with that of the RealStar assay using 207 clinical specimens (HHV-6A positive, n = 51; HHV-6B positive, n = 64; HHV-6A/B negative, n = 92). The limit of detection of the SMG assay was 2.92 log10 copies/mL for HHV-6A DNA and 2.88 log10 copies/mL for HHV-6B DNA. The linear range was determined to be 3.40-9.00 log10 copies/mL for both viruses. Intra- and inter-assay variability were below 5% at concentrations ranging from 4 to 9 log10 copies/mL. No cross-reactivity was observed with the 25 microorganisms included in the specificity panel. The clinical sensitivity and specificity of the SMG and RealStar assays compared to in-house polymerase chain reaction and sequencing were as follows: SMG assay, 98.0% and 100% for HHV-6A DNA, respectively, and 96.9% and 100% for HHV-6B DNA, respectively; RealStar assay, 98.0% and 100% for HHV-6A DNA, respectively, and 90.6% and 100% for HHV-6B DNA, respectively. The correlation coefficients between viral loads measured by the two assays were 0.948 and 0.975, with mean differences of 0.62 and 0.32 log10 copies/mL for HHV-6A and HHV-6B DNA, respectively. These results demonstrate that the SMG assay is a sensitive and reliable tool for the quantitative detection and differentiation of HHV-6A and HHV-6B DNA.IMPORTANCEQuantitative real-time PCR (qPCR) that can distinguish between HHV-6A and HHV-6B DNA is recommended for diagnosis of active infection. The SMG HHV-6 Q Real-Time PCR Kit (SMG assay) is a newly developed qPCR assay that can differentiate between HHV-6A and HHV-6B DNA; however, little is known about its performance. In this study, we assessed the performance of the SMG assay and compared it with that of a commercially available qPCR assay, the RealStar HHV-6 PCR Kit (RealStar assay). The SMG assay demonstrated excellent analytical sensitivity and specificity, precision, and linearity. Furthermore, the viral loads measured by the SMG assay were highly correlated with those measured by the RealStar assay. Our results suggest that the SMG assay is a useful diagnostic tool for quantitative detection and differentiation of HHV-6A and HHV-6B DNA.

Susceptibility to Fosfomycin and Nitrofurantoin of ESBL-Positive Escherichia coli and Klebsiella pneumoniae Isolated From Urine of Pediatric Patients.

BACKGROUND: Pediatric urinary tract infection (UTI) caused by extended-spectrum ß-lactamase (ESBL)-positive gram-negative bacilli (GNB) has limited options for oral antibiotic treatment. The purpose of this study was to investigate the susceptibility of ESBL-positive Escherichia coli and Klebsiella pneumoniae isolates from pediatric urine samples to two oral antibiotics (fosfomycin and nitrofurantoin). METHODS: From November 2020 to April 2022, ESBL-positive E. coli and K. pneumoniae isolates from urine samples were collected at Samsung Medical Center, Seoul, Korea. Patients over 18 years of age or with malignancy were excluded. For repeated isolates from the same patient, only the first isolate was tested. Minimum inhibitory concentrations (MICs) were measured using agar (fosfomycin) or broth (nitrofurantoin) dilution methods. MIC50 and MIC90 were measured for fosfomycin and nitrofurantoin in both E. coli and K. pneumoniae. RESULTS: There were 117 isolates from 117 patients, with a median age of 7 months (range, 0.0-18.5 years). Among 117 isolates, 92.3% (108/117) were E. coli and 7.7% (9/117) were K. pneumoniae. Isolates from the pediatric intensive care unit (PICU) and general ward (GW) was 11.1% (13/117) and 88.9% (104/117), respectively. Among 108 E. coli isolates, MIC50 and MIC90 for fosfomycin were 0.5 µg/mL and 2 µg/mL, respectively. Fosfomycin susceptibility rate was 97.2% (105/108) with a breakpoint of 128 µg/mL. Fosfomycin susceptibility rate was significantly lower in PICU isolates than in GW isolates (81.8% vs. 99.0%, P = 0.027). For nitrofurantoin, both the MIC50 and MIC90 were 16 µg/mL. Nitrofurantoin susceptibility rate was 96.3% (104/108) with a breakpoint of 64 µg/mL based on Clinical and Laboratory Standards Institute guidelines. Among the nine K. pneumoniae isolates, the MIC50 and MIC90 for fosfomycin was 2 µg/mL and 32 µg/mL, respectively. MIC50 and MIC90 for nitrofurantoin were 64 µg/mL and 128 µg/mL, respectively. CONCLUSION: For uncomplicated UTI caused by ESBL-positive GNB in Korean children, treatment with fosfomycin and nitrofurantoin for E. coli infections can be considered as an effective oral therapy option.

Subclavian Artery Pseudoaneurysm Following Bedside Temporary Hemodialysis Catheter Insertion: A Case Report.

A pseudoaneurysm of the subclavian artery following central venous catheter placement is a rare but potentially fatal complication that often requires surgical intervention. However, surgical repair of the subclavian artery remains challenging. Herein, we report the case of a male patient undergoing hemodialysis who developed a pseudoaneurysm of the subclavian artery after a bedside central vein catheter placement. Hemostasis was successfully achieved by selecting the pseudoaneurysm using a microcatheter. At the 10-month follow-up, the pseudoaneurysm was completely excluded, and the patient was in a stable condition. The patient underwent native arteriovenous fistula creation and hemodialysis. Endovascular treatment could be an effective nonsurgical treatment for subclavian artery pseudoaneurysms and has been attempted as a first-line treatment option.

Reversible Ortner's Syndrome as a Presenting Feature of Thyrotoxicosis in an Adolescent: A Rare Case Report.

Ortner's or cardiovocal syndrome is hoarseness attributable to left recurrent laryngeal nerve (RLN) palsy associated with mechanical compression of the nerve by pathologically enlarged cardiovascular structures. Ortner's syndrome is a rare condition, and to our knowledge, only a few cases have been reported in Korea. Furthermore, this condition is extremely uncommon in pediatric patients with thyrotoxicosis-related RLN paralysis. We report a case of reversible Ortner's syndrome in an adolescent who presented with secondary pulmonary hypertension related to thyrotoxicosis.

False-positive Aspergillus galactomannan immunoassay in the glucose component of total parenteral nutrition products.

IMPORTANCE: This manuscript describes an occurrence of false-positive GM tests in patients receiving TPN products from a manufacturer who had recently changed the supplier of the glucose component. We describe the clinical presentation of nine false-positive cases and the results of serologic and microbiological investigations of the TPN products suspected of contamination with GM. Attempts to detect GM in parenteral nutrition products were made since the detection of GM in sodium gluconate-containing solutions in 2007, but none of them identified the source of elevated GM indexes in TPN products. However, the present study demonstrated that the glucose component of the TPN products contained a high level of GM antigen, which caused false-positive GM assay results. The source of GM was glucoamylase, which was derived from A. niger in the manufacturing process. Physicians and clinical microbiology laboratories should be aware of this issue to improve interpretation and patient care.

Loop-mediated isothermal amplification assay for screening congenital cytomegalovirus infection in newborns.

Congenital cytomegalovirus (CMV) infection is a common cause of sensorineural hearing loss and neurodevelopmental impairment in newborns. However, congenital CMV infection cannot be diagnosed using samples collected more than 3 weeks after birth because testing after this time cannot distinguish between congenital infection and postnatal infection. Herein, we developed a robust loop-mediated isothermal amplification (LAMP) assay for the large-scale screening of newborns for congenital CMV infection. In contrast to conventional quantitative polymerase chain reaction (qPCR), which detects CMV within a dynamic range of 1.0 × 106 to 1.0 × 102 copies/µL, our quantitative LAMP assay (qLAMP) detects CMV within a dynamic range of 1.1 × 108 to 1.1 × 103 copies/µL. Moreover, the turnaround time for obtaining results following DNA extraction is 90 min in qPCR but only 15 min in qLamp. The colorimetric LAMP assay can also detect CMV down to 1.1 × 103 copies/µL within 30 min, irrespective of the type of heat source. Our LAMP assay can be utilized in central laboratories as an alternative to conventional qPCR for quantitative CMV detection, or for point-of-care testing in low-resource environments, such as developing countries, via colorimetric naked-eye detection. KEY POINTS: • LAMP assay enables large-scale screening of newborns for congenital CMV infection. • LAMP allows colorimetric or quantitative detection of congenital CMV infection. • LAMP assay can be used as a point-of-care testing tool in low-resource environments.

The Multifaceted Clinical Characteristics of Congenital Cytomegalovirus Infection: From Pregnancy to Long-Term Outcomes.

BACKGROUND: The aim of this study was to capture multifaceted clinical characteristics of congenital cytomegalovirus (CMV) infection from diagnosis to treatment using a multidisciplinary approach including obstetrics, pediatrics, pathology, and otorhinolaryngology-head and neck surgery. METHODS: This is a retrospective study including 30 consecutive cases of congenital CMV infection that were diagnosed at a single tertiary hospital located in Seoul, Korea from January 2009 to December 2020. Congenital CMV infection was defined as a positive result by polymerase chain reaction from urine, saliva or cerebrospinal fluid or positive CMV IgM from neonatal blood sampled within 3 weeks after birth. All cases were analyzed with respect to whole clinical characteristics from diagnosis to treatment of congenital CMV by a multidisciplinary approach including prenatal sonographic findings, maternal immune status regarding CMV infection, detailed placental pathology, neonatal clinical manifestation, auditory brainstem response test, and antiviral treatment (ganciclovir or valganciclovir). Long-term outcomes including developmental delay and hearing loss were also investigated. RESULTS: The total number of births during the study period in our institution was 19,385, with the prevalence of congenital infection estimated to be 0.15%. Among 30 cases of congenital CMV, the median gestational age at delivery was 32.2 weeks [range, 22.6-40.0] and 66.7% of these infants were delivered preterm at less than 37 weeks. Suspected fetal growth restriction was the most common prenatal ultrasound finding (50%) followed by ventriculomegaly (17.9%) and abnormal placenta (17.9%), defined as thick placenta with calcification. No abnormal findings on ultrasound examination were observed in one-third of births. Maternal CMV serology tests were conducted in only 8 cases, and one case each of positive and equivocal IgM were found. The most common placental pathologic findings were chronic villitis (66.7%) and calcification (63.0%), whereas viral inclusions were identified in only 22.2%. The most common neonatal manifestations were jaundice (58.6%) followed by elevation of aspartate aminotransferase (55.2%) and thrombocytopenia (51.7%). After excluding cases for which long-term outcomes were unavailable due to death (n = 4) or subsequent follow up loss (n = 3), developmental delay was confirmed in 43.5% of infants (10/23), and hearing loss was confirmed in 42.9% (9/21) during the follow-up period. In our cohort, 56.7% (17/30) of neonates were treated for congenital CMV with ganciclovir or valganciclovir. CONCLUSION: Our data show that prenatal findings including maternal serologic tests and ultrasound have limited ability to detect congenital CMV in Korea. Given that CMV is associated with high rates of developmental delay and hearing loss in infants, there is an urgent need to develop specific strategies for the definite diagnosis of congenital CMV infection during the perinatal period by a multidisciplinary approach to decrease the risks of neurologic impairment and hearing loss through early antiviral treatment.

COVID-19 Vaccination Status Among Korean Pediatric Population With Comorbidities.

The pediatric population with comorbidities is a high-risk group for severe coronavirus disease 2019 (COVID-19). As of January 2023, the COVID-19 vaccination rate for at least two doses among Korean children 5-11 years is low at 1.1%. We summarized the COVID-19 vaccination status for the pediatric population (5-17 years) with comorbidities through July 2022 using the National Health Insurance Service database. Pediatric patients with comorbidities had higher vaccination rates than the general pediatric population (2.4% vs. 1.1% in 5-11-year-olds [P < 0.001], 76.5% vs. 66.1% in 12-17-year-olds [P < 0.001]). However, there were substantial differences according to comorbidity category, and the 2-dose vaccination rate was lowest among children with immunodeficiency in all age groups (1.1% in 5-11-year-olds, 51.2% in 12-17-year-olds). The COVID-19 vaccination rate among Korean children has remained stagnant at a low proportion despite ongoing outreach. Thus, more proactive strategies are needed alongside continuous surveillance.

Added Value of Cone-Beam Computed Tomography for Detecting Hepatocellular Carcinomas and Feeding Arteries during Transcatheter Arterial Chemoembolization Focusing on Radiation Exposure.

Background and Objectives: This study aimed to evaluate the added value of cone-beam computed tomography (CBCT) for detecting hepatocellular carcinomas (HCC) and feeding arteries during transcatheter arterial chemoembolization (TACE). Material and methods: Seventy-six patients underwent TACE and CBCT. We subcategorized patients into groups I (61 patients: possible superselection of tumor/feeding arteries) and II (15 patients: limited superselection of tumor/feeding arteries). We evaluated fluoroscopy time and radiation dose during TACE. Two blinded radiologists independently performed an interval reading based on digital subtraction angiography (DSA) imaging only and DSA combined with CBCT in group I. Result: The mean total fluoroscopy time was 1456.3 ± 605.6 s. The mean dose-area product (DAP), mean DAP of CBCT, and mean ratio of DAP of CBCT to total DAP was 137.1 ± 69.2 Gy cm2, 18.3 ± 7.1 Gy cm2, and 13.3%, respectively. The sensitivity for detecting HCC increased after the additional CBCT reading, from 69.6% to 97.3% and 69.6% to 96.4% for readers 1 and 2, respectively. The sensitivity for detecting feeding arteries increased from 60.3% to 96.6% and 63.8% to 97.4% for readers 1 and 2, respectively. Conclusions: CBCT can increase sensitivity for detecting HCCs and feeding arteries without significantly increasing the radiation exposure.

[Delayed Bilateral Common Femoral Pseudoaneurysm after Percutaneous Access with Interventional Management: A Case Report]. / ê²½í”¼ì  ì ‘ê·¼ì„ 통한 ì‹œìˆ í›„ì— 발생한 지연성 양측 총대퇴 가성동맥류 및 ì¸í„°ë²¤ì ˜ 치료: 증례 ë³´ê³ .

Common femoral artery pseudoaneurysm is a potentially serious complication of peripheral angiography. There have been few prior reports of simultaneous pseudoaneurysm in both common femoral arteries after percutaneous access. Here we report the case of a 58-year-old male patient who presented with phlegmon or abscess a few days after bilateral femoral access, after which newly developed bilateral femoral pseudoaneurysm with wide neck was observed on CT angiography 2 months after infection treatment. Because the patient refused surgery for pseudoaneurysm, a stent-graft was inserted in the left side, and percutaneous thrombin injection under US guidance with balloon occlusion was performed for the right side. Most pseudoaneurysms occur immediately after the causative procedure. However, there have been some cases in which pseudoaneurysms may occur several weeks or months later; it is therefore necessary to check the risk factors and to carefully observe the hemostasis site.

[Comparison of True and Virtual Non-Contrast Images of Liver Obtained with Single-Source Twin Beam and Dual-Source Dual-Energy CT]. / 간의 ë‹¨ì¼ì„ ì› Twin Beamê³¼ ì´ì¤‘ì„ ì› 이중에너지 ì „ì‚°í™”ë‹¨ì¸µì´¬ì˜ì˜ 비조영증강 영상과 가상 비조영증강 영상의 비교 연구.

Purpose: To assess the magnitude of differences between attenuation values of the true non-contrast image (TNC) and virtual non-contrast image (VNC) derived from twin-beam dual-energy CT (tbDECT) and dual-source DECT (dsDECT). Materials and Methods: This retrospective study included 62 patients who underwent liver dynamic DECT with tbDECT (n = 32) or dsDECT (n = 30). Arterial VNC (AVNC), portal VNC (PVNC), and delayed VNC (DVNC) were reconstructed using multiphasic DECT. Attenuation values of multiple intra-abdominal organs (n = 11) on TNCs were subsequently compared to those on multiphasic VNCs. Further, we investigated the percentage of cases with an absolute difference between TNC and VNC of ≤ 10 Hounsfield units (HU). Results: For the mean attenuation values of TNC and VNC, 33 items for each DECT were compared according to the multiphasic VNCs and organs. More than half of the comparison items for each DECT showed significant differences (tbDECT 17/33; dsDECT 19/33; Bonferroni correction p < 0.0167). The percentage of cases with an absolute difference ≤ 10 HU was 56.7%, 69.2%, and 78.6% in AVNC, PVNC, and DVNC in tbDECT, respectively, and 70.5%, 78%, and 78% in dsDECT, respectively. Conclusion: VNCs derived from the two DECTs were insufficient to replace TNCs because of the considerable difference in attenuation values.

Contralateral brachial arterial access for endovascular treatment of recurrent axillofemoral bypass graft stump syndrome: A case report.

Axillofemoral bypass graft stump syndrome is an uncommon complication of axillofemoral bypass graft surgery. The traditional treatment is open surgical repair; however, endovascular recanalization can be achieved. Interventional treatment by approaching the brachial artery contralateral to the lesion site has rarely been reported in acute upper extremity ischemia. We report a case of recanalization through the left brachial artery due to embolic occlusion of the right brachial and axillary arteries and suspected axillofemoral bypass graft stump syndrome in a 71-year-old man. Access through the common femoral artery was impossible because the patient underwent reoperation of the left axillofemoral bypass and femorofemoral bypass due to occlusion of the right axillofemoral bypass and femorofemoral bypass surgery. Furthermore, bilateral radial arteries were occluded, allowing access to the left brachial artery. Two self-expandable stents were inserted into the occlusion of the right brachial and axillary arteries, and the stump area was covered. Aspiration thrombectomy was performed for embolism in the ulnar artery. Axillofemoral bypass graft stump syndrome can also be treated with interventional management. If access to the bilateral common femoral and radial arteries is not possible, an upper extremity arterial procedure through the contralateral brachial artery may be considered in cases of steno-occlusion of the upper extremities.

Effectiveness of ultrasound-guided percutaneous transhepatic biliary drainage to reduce radiation exposure: A single-center experience.

Percutaneous transhepatic biliary drainage (PTBD) has been an effective treatment to access the biliary tree, especially in case of endoscopically inaccessible biliary tree. In general, PTBD techniques are divided into two methods: fluoroscopy-guided PTBD and ultrasound (US)-guided PTBD. This study aimed to evaluate the effectiveness of US-guided PTBD, focusing on radiation exposure according to intrahepatic duct (IHD) dilatation degree, differences between right- and left-sided approaches and differences between benign and malignant biliary stenosis/obstruction. We evaluated technical success, clinical success, procedural data (the number of liver capsule punctures, procedural time, fluoroscopy time and radiation dose), and procedure-related complications. During the study period, a total of 123 patients with biliary stenosis/obstruction or bile leakage were initially eligible. We excluded 76 patients treated with only ERCP or initially treated with ERCP followed underwent PTBD insertion. Finally, a total of 50 procedures were performed in 47 patients. Of the 47 patients, 8 patients had anatomical alteration due to previous surgery, 6 patients refused ERCP, and 3 patients failed ERCP. For the remaining 30 patients, PTBD was performed on weekend or at night, 11 of whom had poor general condition, 10 patients underwent ERCP 3 to 4 days later after PTBD insertion, 6 patients improved after PTBD insertion without ERCP, 1 patient died, and 1 patient was referred to other hospital. Remaining 1 patient underwent surgery due to Mirizzi syndrome. All procedures were performed by two interventional radiologists. Technical success rate was 100%, clinical success was 94%, and the complication rate was 10%. Fluoroscopy time and the reported radiation dose were significantly lower in patients with dilated bile ducts than in those with non-dilated bile ducts, when biliary puncture under US guidance was performed initially. However, even in patients with non-dilated bile ducts undergoing initial trials of biliary puncture under US guidance, the fluoroscopy time and the reported radiation dose were low, based on current studies. No statistical significant differences were observed in terms of technical and dosimetry results according to right-sided and left-sided procedures and benign and malignant biliary stenosis/obstruction. Thus, US-guided PTBD was found to be a safe and effective technique that significantly reduced fluoroscopy time and radiation doses.

Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1.

X-linked lymphoproliferative disease type 1 (XLP1), an X-linked recessive genetic disorder, is associated with primary immunodeficiency. Patients with XLP1 are susceptible to Epstein-Barr virus (EBV) infection. SH2D1A gene is known as the causative gene. We found a novel hemizygous variant of SH2D1A, c.162_201+31delinsTACAAGGACATATACA, from a 5-year-old male patient who had been diagnosed with EBV infection and Hodgkin's lymphoma. In targeted next-generation sequencing (NGS), complex variants at exon 2 were not consistently identified with two software programs. They showed a soft-clipped read pattern. The variant had a 71-bp deletion and a 16-bp insertion across exon 2 as confirmed by direct sequencing. As the variant was located within the exon-intron boundary, two aberrant transcripts were shown by RNA study. Although NGS method has a limitation in detecting large deletion/duplication variants, proper bioinformatics pipeline and careful review of data might enable the detection of complex variants.

Quantitative Analysis of Pancreatic Fat in Children with Obesity Using Magnetic Resonance Imaging and Ultrasonography.

PURPOSE: The aim of this study was to evaluate the pancreatic fat fraction (PFF) using magnetic resonance imaging (MRI) in children with and without obesity and to correlate PFF with body mass index (BMI) z-score, hepatic fat fraction (HFF), and ultrasonography-derived pancreato-perihepatic fat index (PPHFI). METHODS: This prospective study included 45 children with obesity and 19 without obesity (control group). PFF and HFF were quantitatively assessed using the abdominal multi-echo Dixon method for MRI. The PPHFI was assessed using transabdominal ultrasonography. Anthropometric, MRI, and ultrasonographic characteristics were compared between the two groups. Correlations between PFF, HFF, PPHFI, and BMI z-scores in each group were also analyzed. RESULTS: The PFF, HFF, PPHFI, and BMI z-score were higher in the group with obesity than in the control group (PFF: 6.65±3.42 vs. 1.78±0.55, HFF: 19.5±13.0 vs. 2.31±1, PPHFI: 3.65 ±1.63 vs. 0.94±0.31, BMI z-score: 2.27±0.56 vs. 0.42±0.54, p<0.01, respectively). PFF was correlated with BMI z-scores, PPHFI, and HFF in the obesity group, and multivariate analysis showed that PFF was strongly correlated with BMI z-score and PPHFI (p<0.05). The BMI z-score was strongly correlated with PFF in the control group (p<0.01). CONCLUSION: These results suggest that MRI-derived PFF measures are associated with childhood obesity. PFF and PPHFI were also highly correlated in the obesity group. Therefore, PFF may be an objective index of pancreatic fat content and has the potential for clinical utility as a non-invasive biomarker for the assessment of childhood obesity.

Epidemiology and Clinical Features of Myocarditis/Pericarditis before the Introduction of mRNA COVID-19 Vaccine in Korean Children: a Multicenter Study.

BACKGROUND: Korean health authority plans to vaccinate adolescents against coronavirus disease 2019 (COVID-19) starting high school seniors during the summer vacation of 2021. However, the myocarditis/pericarditis following COVID-19 vaccine has been reported recently in adolescents and young adults. This study was performed to answer the urgent questions about the basic epidemiology and clinical course of myocarditis/pericarditis in hospitalized patients prior to the introduction of COVID-19 vaccines in pediatric population. METHODS: A retrospective medical record analysis including frequency, clinical characteristics, etiology and outcome of myocarditis/pericarditis was conducted in 17 years and younger patients who were hospitalized in two referral hospitals in Korea between 2010 and 2019. RESULTS: Total 142 patients with myocarditis (n = 119) and/or pericarditis (n = 23) were identified. Median age was 5.4 years (interquartile range, 0.6-12.9 years; range, 11 days-17.8 years), and male was 61%. In adolescents aged 12-17 years, the male to female ratio was 3.2. Myocarditis/pericarditis occurred 0.70 per 1,000 in-patients during the study period: 0.96 (< 1 year), 0.50 (1-5 years), 0.67 (6-11 years) and 1.22 (12-17 years) per 1,000 in-patients, respectively. There was an increasing tendency for the annual frequency from 0.34 in 2010 to 1.25 per 1,000 in-patients in 2019 (P = 0.021). Among the 56 (40%) proven pathogens at admission, Mycoplasma pneumoniae (n = 11, 8%) and enterovirus (n = 10, 7%) were most common. Of the 142 patients, 99 (70%) required pediatric intensive care unit care and 10 (7%) received heart transplantation. In addition, 61 patients (61/131, 47%) without heart medication at admission needed heart medication when they were discharged. Eleven (7.7%) patients died, of which five patients were previously healthy. The median age of deceased patients was lower than the survival group (0.8 vs. 6.3 years, P = 0.014). CONCLUSION: The frequency of myocarditis/pericarditis was highest among male adolescent in-patients; however, the outcome was favorable in this group without any mortality.