Objective: This study aimed to evaluate the utility of the Korean version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT) in hospital settings and to identify items sensitive for detecting autism spectrum disorder (ASD) trait. Methods: The Q-CHAT was administered to a clinical sample of children presenting with developmental delays with a high probability of ASD in a hospital setting (n=37), as well as to typically developing community children (n=67), aged 12 to 54 months. Results: The mean Q-CHAT total score in the hospital sample (42.0±13.6) was significantly higher than in the community sample (29.9±7.8), with maximized sensitivity and adequate specificity at 32.5 (sensitivity=0.811, specificity=0.687). The internal consistency of Q-CHAT was 0.764 for the overall sample and 0.825 for the hospital sample. Q-CHAT total scores and item scores in the hospital sample remained stable across age groups, indicating age-invariant properties. The hospital sample showed higher endorsement of less favorable development in social interaction and reciprocity items compared to community sample. No difference in the Q-CHAT item scores was present among age groups in the hospital samples. In the community samples, item scores, such as comprehending a child’s speech, using the hand of others as a tool, adapting to a change in routine, repeating the same action, and making unusual finger movements, decreased with the advance of age. Conclusion The Korean version of the Q-CHAT demonstrates good validity and reliability and is effective in discriminating autistic traits even in children older than 24 months. The items endorsed for hospital samples varied from community samples, implying item-specific sensitivity for hospital samples.

Objective: This study aimed to evaluate the utility of the Korean version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT) in hospital settings and to identify items sensitive for detecting autism spectrum disorder (ASD) trait. Methods: The Q-CHAT was administered to a clinical sample of children presenting with developmental delays with a high probability of ASD in a hospital setting (n=37), as well as to typically developing community children (n=67), aged 12 to 54 months. Results: The mean Q-CHAT total score in the hospital sample (42.0±13.6) was significantly higher than in the community sample (29.9±7.8), with maximized sensitivity and adequate specificity at 32.5 (sensitivity=0.811, specificity=0.687). The internal consistency of Q-CHAT was 0.764 for the overall sample and 0.825 for the hospital sample. Q-CHAT total scores and item scores in the hospital sample remained stable across age groups, indicating age-invariant properties. The hospital sample showed higher endorsement of less favorable development in social interaction and reciprocity items compared to community sample. No difference in the Q-CHAT item scores was present among age groups in the hospital samples. In the community samples, item scores, such as comprehending a child’s speech, using the hand of others as a tool, adapting to a change in routine, repeating the same action, and making unusual finger movements, decreased with the advance of age. Conclusion The Korean version of the Q-CHAT demonstrates good validity and reliability and is effective in discriminating autistic traits even in children older than 24 months. The items endorsed for hospital samples varied from community samples, implying item-specific sensitivity for hospital samples.

Objective: This study aimed to evaluate the utility of the Korean version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT) in hospital settings and to identify items sensitive for detecting autism spectrum disorder (ASD) trait. Methods: The Q-CHAT was administered to a clinical sample of children presenting with developmental delays with a high probability of ASD in a hospital setting (n=37), as well as to typically developing community children (n=67), aged 12 to 54 months. Results: The mean Q-CHAT total score in the hospital sample (42.0±13.6) was significantly higher than in the community sample (29.9±7.8), with maximized sensitivity and adequate specificity at 32.5 (sensitivity=0.811, specificity=0.687). The internal consistency of Q-CHAT was 0.764 for the overall sample and 0.825 for the hospital sample. Q-CHAT total scores and item scores in the hospital sample remained stable across age groups, indicating age-invariant properties. The hospital sample showed higher endorsement of less favorable development in social interaction and reciprocity items compared to community sample. No difference in the Q-CHAT item scores was present among age groups in the hospital samples. In the community samples, item scores, such as comprehending a child’s speech, using the hand of others as a tool, adapting to a change in routine, repeating the same action, and making unusual finger movements, decreased with the advance of age. Conclusion The Korean version of the Q-CHAT demonstrates good validity and reliability and is effective in discriminating autistic traits even in children older than 24 months. The items endorsed for hospital samples varied from community samples, implying item-specific sensitivity for hospital samples.

Objective: This study aimed to evaluate the utility of the Korean version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT) in hospital settings and to identify items sensitive for detecting autism spectrum disorder (ASD) trait. Methods: The Q-CHAT was administered to a clinical sample of children presenting with developmental delays with a high probability of ASD in a hospital setting (n=37), as well as to typically developing community children (n=67), aged 12 to 54 months. Results: The mean Q-CHAT total score in the hospital sample (42.0±13.6) was significantly higher than in the community sample (29.9±7.8), with maximized sensitivity and adequate specificity at 32.5 (sensitivity=0.811, specificity=0.687). The internal consistency of Q-CHAT was 0.764 for the overall sample and 0.825 for the hospital sample. Q-CHAT total scores and item scores in the hospital sample remained stable across age groups, indicating age-invariant properties. The hospital sample showed higher endorsement of less favorable development in social interaction and reciprocity items compared to community sample. No difference in the Q-CHAT item scores was present among age groups in the hospital samples. In the community samples, item scores, such as comprehending a child’s speech, using the hand of others as a tool, adapting to a change in routine, repeating the same action, and making unusual finger movements, decreased with the advance of age. Conclusion The Korean version of the Q-CHAT demonstrates good validity and reliability and is effective in discriminating autistic traits even in children older than 24 months. The items endorsed for hospital samples varied from community samples, implying item-specific sensitivity for hospital samples.

Objective: This study aimed to evaluate the utility of the Korean version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT) in hospital settings and to identify items sensitive for detecting autism spectrum disorder (ASD) trait. Methods: The Q-CHAT was administered to a clinical sample of children presenting with developmental delays with a high probability of ASD in a hospital setting (n=37), as well as to typically developing community children (n=67), aged 12 to 54 months. Results: The mean Q-CHAT total score in the hospital sample (42.0±13.6) was significantly higher than in the community sample (29.9±7.8), with maximized sensitivity and adequate specificity at 32.5 (sensitivity=0.811, specificity=0.687). The internal consistency of Q-CHAT was 0.764 for the overall sample and 0.825 for the hospital sample. Q-CHAT total scores and item scores in the hospital sample remained stable across age groups, indicating age-invariant properties. The hospital sample showed higher endorsement of less favorable development in social interaction and reciprocity items compared to community sample. No difference in the Q-CHAT item scores was present among age groups in the hospital samples. In the community samples, item scores, such as comprehending a child’s speech, using the hand of others as a tool, adapting to a change in routine, repeating the same action, and making unusual finger movements, decreased with the advance of age. Conclusion The Korean version of the Q-CHAT demonstrates good validity and reliability and is effective in discriminating autistic traits even in children older than 24 months. The items endorsed for hospital samples varied from community samples, implying item-specific sensitivity for hospital samples.

Background: Urothelial carcinoma (UC) accounts for roughly 90% of bladder cancer, and has a high propensity for diverse differentiation. Recently, certain histologic variants of UC have been recognized to be associated with unfavorable clinical outcomes. Several UC studies have also suggested that tumor budding is a poor prognostic marker. Distant metastasis of UC after radical cystectomy is not uncommon. However, these metastatic lesions are not routinely confirmed with histology. Methods: We investigated the histopathologic features of 13 cases of UC with biopsy-proven distant metastases, with a special emphasis on histologic variants and tumor budding. Results: Lymph nodes (6/13, 46%) were the most common metastatic sites, followed by the lung (4/13, 31%), liver (4/13, 31%), and the adrenal gland (2/13, 15%). The histologic variants including squamous (n=1), micropapillary (n=4), and plasmacytoid (n=1) variants in five cases of UC. Most histologic variants (4/5, 80%) of primary UCs appeared in the metastatic lesions. In contrast, high-grade tumor budding was detected in six cases (46%), including one case of non-muscle invasive UC. Our study demonstrates that histologic variants are not uncommonly detected in distant metastatic UCs. Most histologic variants seen in primary UCs persist in the distant metastatic lesions. In addition, high-grade tumor budding, which occurs frequently in primary tumors, may contribute to the development of distant metastasis. Conclusions Therefore, assessing the presence or absence of histologic variants and tumor budding in UCs of the urinary bladder, even in non-muscle invasive UCs, may be useful to predict distant metastasis.

Background: Distinguishing prostatic stromal invasion (PSI) by urothelial carcinoma (UC) from in situ UC involving prostatic ducts or acini with no stromal invasion (in situ involvement) may be challenging on hematoxylin and eosin stained sections. However, the distinction between them is important because cases with PSI show worse prognosis. This study was performed to assess the utility of double cocktail immunostains with high molecular weight cytokeratin (HMWCK) and GATA-3 to discriminate PSI by UC from in situ UC involvement of prostatic ducts or acini in the prostate. Methods: Among 117 radical cystoprostatectomy specimens for bladder UCs, 25 cases showed secondary involvement of bladder UC in prostatic ducts/acini only or associated stromal invasion and of these 25 cases, seven cases revealed equivocal PSI. In these seven cases with equivocal PSI, HMWCK, and GATA-3 double immunohistochemical stains were performed to identify whether this cocktail stain is useful to identify the stromal invasion. Results: In all cases, basal cells of prostate glands showed strong cytoplasmic staining for HMWCK and UC cells showed strong nuclear staining for GATA-3. In cases with stromal invasion of UC, GATA-3-positive tumor cells in the prostatic stroma without surrounding HMWCK-positive basal cells were highlighted and easily recognized. Among seven equivocal cases, two cases showed PSI and five in situ UC in the prostate. In two cases, the original diagnoses were revised. Conclusions Our study suggested that HMWCK and GATA-3 double stains could be utilized as an adjunct method in the distinction between PSI by UC from in situ UC involving prostatic ducts or acini.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by mutations in FOXF1. Herein, we describe a newborn boy with ACD/MPV carrying a novel pathogenic variant of FOXF1. The patient developed respiratory distress and severe pulmonary hypertension on the first day of life. Despite aggressive cardiorespiratory management, including veno-venous extracorporeal membrane oxygenation, his condition deteriorated rapidly, and he died within the first month of his life. Lung histology showed the characteristic features of ACD/MPV at autopsy. Sequence analysis of FOXF1 from genomic DNA obtained from autopsied lung tissue revealed that the patient was heterozygous for a novel missense variant (c.305T>C; p.Leu102Pro). Further analysis of both parents confirmed the de novo occurrence of the variant. To the best of our knowledge, this is the first report of genetically confirmed ACD/MPV in Korea.
Autopsy ; DNA ; Extracorporeal Membrane Oxygenation ; Female ; Humans ; Hypertension, Pulmonary ; Infant, Newborn* ; Korea ; Lung ; Male ; Mortality ; Parents ; Persistent Fetal Circulation Syndrome* ; Sequence Analysis

Neuroblastoma (NB) is the most common extra-cranial solid tumor of childhood and is characterized by a wide range of clinical behaviors. Amplification of MYCN is a well-known poor prognostic factor in NB patients. As the MYCN amplification status is usually tested using tumor specimens, lengthy and invasive procedures are unavoidable. To evaluate the possibility of detecting MYCN amplification without invasive procedure, we performed conventional polymerase chain reaction (PCR) analysis to identify MYCN amplification using the preserved serum DNA. PCR of serum DNA was done in 105 NB patients whose MYCN status had been confirmed by fluorescence in situ hybridization. MYCN amplification was evaluated as the ratio of signal intensities between MYCN and NAGK (M/N ratio). When regarding the tissue FISH results as a reference, 10 patients had MYCN-amplified (MNA) NB, and 95 had non-MNA NB. The M/N ratio of the MNA group (median 2.56, range 1.01-3.58) was significantly higher than that of the non-MNA group (median 0.97, range 0.67-5.18) (P < 0.001). In the receiver operating characteristic curve analysis, the area under the curve was 0.957 (95% confidence interval 0.898-1.000; P < 0.001), and it showed 90.9% sensitivity and 97.9% specificity with the selected cut-off value set as 1.6. The detection of MYCN amplification using conventional PCR analysis of serum samples seems to be a simple and promising method to evaluate the MYCN status of NB patients. Further study with a larger set of patients is needed to confirm the accuracy of this result.
DNA* ; Fluorescence ; Humans ; In Situ Hybridization ; Methods ; Neuroblastoma ; Polymerase Chain Reaction* ; ROC Curve ; Sensitivity and Specificity

BACKGROUND: To evaluate the value of random urinary vanillylmandelic acid (VMA) as a surrogate marker for monitoring tumor response and predicting outcome in patients with neuroblastoma (NB). METHODS: Medical records of 91 patients newly diagnosed with NB at the Samsung Medical Center between June 2014 and August 2017 were reviewed. Clinical associations and other prognostic factors, including age at diagnosis, stage, pathologic subtype, MYCN amplification, and other cytogenetic aberrations, were analyzed. Furthermore, the significance of random urinary VMA level in predicting outcome and tumor response was also evaluated. RESULTS: The median random urinary VMA level at diagnosis was 27.9 (range: 1.7–600) mg/g creatinine. Abdominal primary site, male sex, advanced stage, less differentiated pathology (poorly differentiated, undifferentiated), 11q deletion, and high-risk tumor were associated with a higher VMA level at diagnosis. The VMA level decreased during chemotherapy (28.4%, 16.9%, and 9.6% of the VMA level at diagnosis after 3, 6, and 9 cycles of chemotherapy, respectively). A higher VMA level at diagnosis tends to be associated with a better overall survival in high-risk patients with borderline significance (58.3±18.6% vs. 76.5±13.4%, P=0.050). However, in the multivariate analysis, the VMA level was not a significant predictor of survival. A slower reduction in VMA level during chemotherapy was not associated with a worse overall survival. However, event free survival was significantly better in the rapid responder group. CONCLUSION: A higher VMA level was associated with high-risk features at diagnosis of NB. Random urinary VMA is a valuable marker for monitoring NB response during chemotherapy.
Biomarkers ; Chromosome Aberrations ; Creatinine ; Diagnosis ; Disease-Free Survival ; Drug Therapy ; Humans ; Male ; Medical Records ; Multivariate Analysis ; Neuroblastoma* ; Pathology ; Prognosis ; Vanilmandelic Acid*