Complex regional pain syndrome (CRPS) is a chronic neuropathic pain disorder. Pain catastrophizing, characterized by magnification, rumination, and helplessness, increases perceived pain intensity and mental distress in CRPS patients. As functional connectivity patterns in CRPS remain largely unknown, we aimed to investigate functional connectivity alterations in CRPS patients and their association with pain catastrophizing using a whole-brain analysis approach. Twenty-one patients with CRPS and 49 healthy controls were included in the study for clinical assessment and resting-state functional magnetic resonance imaging. Between-group differences in whole-brain functional connectivity were examined through a Network-based Statistics analysis. Associations between altered functional connectivity and the extent of pain catastrophizing were also assessed in CRPS patients. Relative to healthy controls, CRPS patients showed higher levels of functional connectivity in the bilateral somatosensory subnetworks (components 1~2), but lower functional connectivity within the prefronto-posterior cingulate (component 3), prefrontal (component 4), prefronto-parietal (component 5), and thalamo-anterior cingulate (component 6) subnetworks (p<0.05, family-wise error corrected). Higher levels of functional connectivity in components 1~2 (β=0.45, p=0.04) and lower levels of functional connectivity in components 3~6 (β=-0.49, p=0.047) were significantly correlated with higher levels of pain catastrophizing in CRPS patients. Higher functional connectivity in the somatosensory subnetworks implicating exaggerated pain perception and lower functional connectivity in the prefronto-parieto-cingulo-thalamic subnetworks indicating impaired cognitive-affective pain processing may underlie pain catastrophizing in CRPS.

Gastrointestinal stromal tumors (GISTs) are not uncommon and often cause gastrointestinal bleeding. GISTs occurring in the small intestine are occasionally difficult to identify by endoscopy and CT. In this case, the patient underwent CT three times before surgery, and the lesion was found to be located in a different area of the abdominal cavity on each CT scan. Moreover, the lesion was missed in the first two CT images because it was difficult to distinguish it from the nearby collapsed small intestine. The lesion was eventually detected through angiography; however, the correct diagnosis and treatment were delayed for 3 years because it was mistaken for a vascular malformation, which is the most common cause of obscure GI bleeding in elderly patients. This report emphasizes the need for interventional radiologists to be updated and vigilant of the angiographic features of GISTs to make an accurate diagnosis and establish a management strategy.

Pylorospasm is a cause of delayed gastric emptying in young infants. As in patients with hypertrophic pyloric stenosis, most pylorospasm patients present with projectile vomiting. However, unlike that in case of hypertrophic pyloric stenosis, no persistent pyloric stenotic lesions are present. As such, follow-up using serial gastrointestinal fluoroscopy or ultrasonography can be helpful in diagnosing patients with clinical signs of gastroparesis. Most cases can be treated conservatively, but some patients require pharmacologic treatment. Antispasmodics have been proposed as a treatment for pylorospasm, but their use in neonates and infants has rarely been reported. Herein, we present a case of pylorospasm diagnosed in the neonatal period and successfully treated with intravenous atropine.
Atropine ; Fluoroscopy ; Follow-Up Studies ; Gastric Emptying ; Gastroparesis ; Humans ; Infant ; Infant, Newborn ; Parasympatholytics ; Pyloric Stenosis, Hypertrophic ; Pylorus ; Spasm ; Ultrasonography ; Vomiting

No abstract available.
Cellulitis

Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6B gene mutation, which was identified using whole exome sequencing.
Contracture ; Exome ; Female ; Humans ; Infant ; Korea ; Lower Extremity

PURPOSE: Congenital pulmonary airway malformation (CPAM)—a rare developmental anomaly—affects the lower respiratory tract in newborns. By comparing the reliability of diagnostic tools and identifying predictive factors for symptoms, we provide comprehensive clinical data for the proper management of CPAM. METHODS: We reviewed the medical records of 66 patients with prenatally diagnosed CPAM delivered at Severance Children's Hospital between January 2005 and July 2017. RESULTS: We enrolled 33 boys and 33 girls. Their mean gestational age and birth weight were 38.8 weeks and 3,050 g, respectively. Prenatal ultrasonography and postnatal radiography, lung ultrasonography, and chest computed tomography (CT) showed inconsistent findings. Chest CT showed superior sensitivity (100%) and positive predictive value (90%). Among the 66 patients, 59 had postnatally confirmed CPAM, three had pulmonary sequestration, one had cystic teratoma, and one had a normal lung. Of the 59 patients with CPAM, 21 (35%; mean age, 23.4 months) underwent surgery, including 15 who underwent video-assisted thoracoscopy. Twenty-five and 12 patients exhibited respiratory symptoms at birth and during infancy, respectively. Apgar scores and mediastinal shift on radiography were significantly associated with respiratory symptoms at birth. However, none of the factors could predict respiratory symptoms during infancy. CONCLUSION: Radiography or ultrasonography combined with chest CT can confirm an unclear or inconsistent lesion. Apgar scores and mediastinal shift on radiography can predict respiratory symptoms at birth. However, symptoms during infancy are not associated with prenatal and postnatal factors. Chest CT combined with periodic symptom monitoring is important for diagnosing and managing patients with prenatally diagnosed CPAM and to guide appropriate timing of surgery.
Birth Weight ; Bronchopulmonary Sequestration ; Cystic Adenomatoid Malformation of Lung, Congenital ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Lung ; Medical Records ; Parturition ; Radiography ; Respiratory System ; Teratoma ; Thoracic Surgery, Video-Assisted ; Thoracoscopy ; Thorax ; Tomography, X-Ray Computed ; Ultrasonography ; Ultrasonography, Prenatal

PURPOSE: Newborn screening (NBS) programs are important for appropriate management of susceptible neonates to prevent serious clinical problems. Neonates admitted to neonatal intensive care units (NICU) are at a potentially high risk of false-positive results, and repetitive NBS after total parenteral nutrition is completely off results in delayed diagnosis. Here, we present the usefulness of a targeted next-generation sequencing (TNGS) panel to complement NBS for early diagnosis in high-risk neonates. MATERIALS AND METHODS: The TNGS panel covered 198 genes associated with actionable genetic and metabolic diseases that are typically included in NBS programs in Korea using tandem mass spectrometry. The panel was applied to 48 infants admitted to the NICU of Severance Children's Hospital between May 2017 and September 2017. The infants were not selected for suspected metabolic disorders. RESULTS: A total of 13 variants classified as likely pathogenic or pathogenic were detected in 11 (22.9%) neonates, including six genes (DHCR7, PCBD1, GAA, ALDOB, ATP7B, and GBA) associated with metabolic diseases not covered in NBS. One of the 48 infants was diagnosed with an isobutyl-CoA dehydrogenase deficiency, and false positive results of tandem mass screening were confirmed in two infants using the TNGS panel. CONCLUSION: The implementation of TNGS in conjunction with conventional NBS can allow for better management of and earlier diagnosis in susceptible infants, thus preventing the development of critical conditions in these sick infants.
Complement System Proteins ; Delayed Diagnosis ; Diagnosis ; Early Diagnosis ; Humans ; Infant ; Infant, Newborn ; Intensive Care Units, Neonatal ; Korea ; Mass Screening ; Metabolic Diseases ; Metabolism, Inborn Errors ; Oxidoreductases ; Parenteral Nutrition, Total ; Tandem Mass Spectrometry

BACKGROUND: The patients receiving hematopoietic stem cell transplantation (HSCT) are known to have a high incidence of breakthrough nausea and vomiting due to the conditioning regimen. The purpose of this study was to evaluate the adequacy of antiemetic therapy for breakthrough nausea and vomiting in patients receiving HSCT and to propose an effective treatment regimen. METHODS: We retrospectively reviewed the electronic medical records of 109 adult patients. The collected data were used to identify (1) antiemetic and dosing regimens prescribed for controlling breakthrough nausea and vomiting, (2) the rate of patients who developed breakthrough nausea and vomiting, and (3) the percent of antiemetics prescribed on the day of symptom onset. Based on the National Comprehensive Cancer Network guideline, we assessed the suitability of antiemetics for breakthrough nausea and vomiting, and prescription timing. RESULTS: All patients were prescribed pro re nata antiemetics. About 40.0%, 41.4%, and 18.6% of patients were using one, two, and three or more additional drugs for breakthrough nausea and vomiting, respectively. The most frequently administered drugs were intravenous metoclopramide (43.8%) and granisetron patch (36.2%). Breakthrough nausea and vomiting occurred in 87 patients (79.1%) and they developed symptoms 320 cases. About 220 cases (68.8%) were treated with additional antiemetics on the day of symptom onset and the rate of symptom resolution was only 10.3% (9 patients). CONCLUSION: The breakthrough nausea and vomiting in patients receiving HSCT occurred very frequently and was hard to control, thus requiring more rapid and aggressive treatments.
Adult ; Antiemetics ; Electronic Health Records ; Granisetron ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Humans ; Incidence ; Metoclopramide ; Nausea* ; Prescriptions ; Retrospective Studies ; Vomiting*

PURPOSE: Little is known about the clinical value of peripheral blood immune profiling. Here, we aimed to identify colorectal cancer (CRC)-related peripheral blood immune cells and develop liquid biopsy-based immune profiling models for CRC diagnosis. METHODS: Peripheral blood from 131 preoperative patients with CRC and 174 healthy controls was analyzed by flow cytometry and automated hematology. CRC-related immune factors were identified by comparing the mean values of immune cell percentages and counts. Subsequently, CRC diagnostic algorithms were constructed using binary logistic regression. RESULTS: Significant differences were observed in percentages and counts of white blood cells, lymphocytes, neutrophils, regulatory T cells, and myeloid-derived suppressor cells (MDSCs) of patients and controls. The neutrophil/lymphocyte and Th1/Th2 ratios were also significantly different. Likewise, the percentages and counts of peripheral blood programed death 1, cytotoxic T lymphocyte antigen 4, B-and T-lymphocyte attenuator, and lymphocyte activation gene-3 were higher in patients with CRC. The binary logistic regression model included 12 variables, age, CD3+%, NK%, CD4+CD279+%, CD4+CD25+%, CD4+CD152+%, CD3+CD366+%, CD3+CD272+%, CD3+CD223+%, CD158b−CD314+CD3−CD56+%, Th2%, and MDSCs cells/µL, for the prediction of cancer. Results of retrospective and prospective evaluation of the area under the curve, sensitivity, and specificity were 0.980 and 0.940, 91.53% and 85.80%, and 93.50% and 86.20%, respectively. CONCLUSION: Peripheral blood immune profiling may be valuable in evaluating the immunity of CRC patients. Our liquid biopsy-based immune diagnostic method and its algorithms may serve as a novel tool for CRC diagnosis. Future largescale studies are needed for better characterization of its diagnostic value and potential for clinical application.
Blood Cells ; Colorectal Neoplasms* ; CTLA-4 Antigen ; Diagnosis ; Early Detection of Cancer ; Flow Cytometry ; Hematology ; Humans ; Immunologic Factors ; Leukocytes ; Logistic Models ; Lymphocyte Activation ; Lymphocytes ; Methods ; Neutrophils ; Prospective Studies ; Retrospective Studies ; Sensitivity and Specificity ; T-Lymphocytes ; T-Lymphocytes, Regulatory

PURPOSE: Caffeine shows wide interindividual pharmacokinetic (PK) variation, and therapeutic drug monitoring (TDM) may be needed. The PK profile of caffeine in Korean preterm neonates was investigated, and factors influencing the clearance of caffeine were analyzed. METHODS: Fifty-nine preterm neonates receiving caffeine for apnea of prematurity were enrolled in the study (gestational age, 29.5±2.2 weeks and birth weight [BW], 1,318±358 g). Caffeine (20 mg/kg) was intravenously administered to each neonate as a loading dose, followed by a maintenance dose of 5-10 mg/kg/d. A total of 190 serum concentrations were measured for population PK analysis and modeling using nonlinear mixed-effects model (NONMEM®) software. RESULTS: The mean serum concentration of caffeine was 15.4±4.5 mg/L (range 7.8-33.0 mg/L). High serum concentrations (>20 mg/L) were noted in 36 samples (29%). At the first measurement of serum caffeine, the mean postmenstrual age was 33.9±2.3 weeks, mean BW was 1,802±471 g, mean duration of treatment was 7.4±9.4 days, and mean sampling time after the last dose was 21.8±2.1 hours. In the population PK analysis, the clearance was 0.033 L/h and volume of distribution was 0.371 L. Typical clearance was calculated as 0.0293×(BW/70)1.33. Among the subjects receiving 5 mg/kg/d caffeine, the most significant risk factor associated with high serum concentrations (>20 mg/L) was low BW (P=0.024). CONCLUSION: BW was the only covariate that influenced caffeine clearance in preterm neonates. Preterm neonates with low BW should be carefully monitored for apnea and adverse reactions in addition to undergoing TDM.
Apnea* ; Birth Weight ; Caffeine* ; Drug Monitoring ; Humans ; Infant, Newborn ; Infant, Premature* ; Pharmacokinetics* ; Risk Factors