Diagnostic accuracy of urinary biomarkers in infants younger than 3 months with urinary tract infection

Jung, Nani,Byun, Hye Jin,Park, Jae Hyun,Kim, Joon Sik,Kim, Hae Won,Ha, Ji Yong The Korean Pediatric Society 2018 Clinical and Experimental Pediatrics (CEP) Vol.61 No.1

Purpose: The aim of this study was to evaluate the diagnostic accuracy of urinary biomarkers, such as neutrophil gelatinase-associated lipocalin (uNGAL) and ${\beta}-2$ microglobulin (uB2MG), in early detection of urinary tract infection (UTI) in infants aged <3 months with fever. Methods: A total of 422 infants aged <3 months (male:female=267:155; mean age, 56.4 days), who were admitted for fever, were retrospectively included in this study. We compared uNGAL and uB2MG between the UTI and non-UTI groups at the time of admission. The sensitivity, specificity, accuracy, and area under the curve (AUC) of uNGAL and uB2MG for use in diagnosing UTI were assessed. Results: Among 422 patients, 102 (24.2%) were diagnosed with UTI. Levels of uNGAL were higher in the UTI group than in the non-UTI group (366.6 ng/mL vs. 26.9 ng/mL, P<0.001). Levels of uB2MG were not different between the 2 groups. Multivariate analysis revealed that uNGAL was an independent predictive factor for UTI (P=0.033). The sensitivity, specificity, and accuracy were 90.2%, 92.5%, and 91.9% for uNGAL, and 48.0%, 43.8%, and 44.8% for uB2MG, respectively. AUC of uNGAL was 0.942 and that of uB2MG was 0.407. Conclusion: Accuracy of uNGAL in the diagnosis of UTI is high in febrile infants aged <3 months. uNGAL can help in the early diagnosis and treatment of UTI in infants.

Current Knowledge on Inherited Platelet Function Disorders

Nani Jung,심예지 대한소아혈액종양학회 2020 Clinical Pediatric Hematology-Oncology Vol.27 No.1

Inherited platelet function disorders (IPFDs) are rare and underdiagnosed in individuals with clinically significant bleeding diathesis. IPFDs are classified according to the causative molecular defects involved in the process of primary hemostasis of platelets, which include the following: 1) adhesion (e.g., Bernard–Soulier syndrome and pseudo-von Willebrand disease), 2) activation (e.g., adenosine diphosphatase receptor defect and thromboxane A2 receptor defect), 3) signal transduction and granule secretion (e.g., gray platelet syndrome, Paris–Trousseau/Jacobsen syndrome, Chediak– Higashi syndrome, and Hermansky–Pudlak syndrome), 4) aggregation (e.g., Glanzmann thrombasthenia), and 5) procoagulant activity (e.g., Scott syndrome). Patients with IPFDs typically present with unexpected mucocutaneous bleeding during early childhood. The diagnosis of these conditions requires several laboratory tests including complete blood cell count, peripheral blood smear, platelet function analysis, light-transmission aggregometry, flow cytometry, electron microscopy, and genetic analysis. Platelet transfusion has been the mainstay of treatment. However, antifibrinolytics, desmopressin, and recombinant activated factor VII are also effective when used as a monotherapy or adjunctive therapy. Importantly, the prevention of bleeding event is the most basic strategy in the management of IPFDs. This review aimed to assess the normal platelet physiology and summarize the current knowledge about the molecular defects, diagnostic evaluation, and treatment strategies of the respective IPFDs. If the cause of the bleeding tendency is difficult to identify, IPFDs should be considered.

Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea

Nani Jung,Do-Hoon Kim,Jung Sook Ha,Ye Jee Shim 대한진단검사의학회 2020 Annals of Laboratory Medicine Vol.40 No.4

Survival and Prognosis of Patients with Pilocytic Astrocytoma: A Single-Center Study

( Jae Hui Park ),( Nani Jung ),( Seok Jin Kang ),( Heung Sik Kim ),( El Kim ),( Hee Jung Lee ),( Hye Ra Jung ),( Misun Choe ),( Ye Jee Shim ) 대한뇌종양학회·대한신경종양학회·대한소아뇌종양학회 2019 Brain Tumor Research and Treatment Vol.7 No.2

Background Pilocytic astrocytoma (PA) is a brain tumor that is relatively more common in children and young adults. Methods We retrospectively reviewed the medical records of patients with PA treated at a single center between 1988 and 2018. Results We included 31 subjects with PA. The median age at diagnosis was 13.4 years, and the median follow-up duration was 9.9 years. The total PA group had a 10-year disease-specific survival (DSS) rate of 92.6% [95% confidence interval (CI), 82.6-100] and 10-year progression-free survival (PFS) rate of 52.8% (95% CI, 32.0-73.6). In patients aged <20 years, tumors were more likely to be located in sites in which gross total tumor resection (GTR) was impossible. No statistically significant difference in 10-year DSS was found between the GTR (100%) and non-GTR (89.7%; 95% CI, 76.2-100; p=0.374) groups. However, a statistically significant difference in 10-year PFS was found between the GTR (100%) and non-GTR groups (30.7%; 95% CI, 8.6-52.8; p=0.012). In the non-GTR group, no statistically significant difference in 10-year DSS was found between the patients who received immediate additional chemotherapy and/or radiotherapy (Add-Tx group, 92.9%; 95% CI, 79.4-100) and the non-Add-Tx group (83.3%; 95% CI, 53.5-100; p=0.577). No statistically significant difference in 10- year PFS was found between the Add-Tx group (28.9%; 95% CI, 1.7-56.1) and non-Add-Tx group (33.3%; 95% CI, 0-70.9; p=0.706). Conclusion The PFS of the patients with PA in our study depended only on the degree of surgical excision associated with tumor location. This study is limited by its small number of patients and retrospective nature. A multicenter and prospective study is necessary to confirm these findings.

A retrospective analysis of etiology and outcomes of hemophagocytic lymphohistiocytosis in children and adults

( Abraham Kwak ),( Nani Jung ),( Ye Jee Shim ),( Heung Sik Kim ),( Hyun Ji Lim ),( Jae Min Lee ),( Mi Hwa Heo ),( Young Rok Do ) 영남대학교 의과대학 2021 Yeungnam University Journal of Medicine Vol.38 No.3

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare but severe, life-threatening inflammatory condition if untreated. We aimed to investigate the etiologies, outcomes, and risk factors for death in children and adults with HLH. Methods: The medical records of patients who met the HLH criteria of two regional university hospitals in Korea between January 2001 and December 2019 were retrospectively investigated. Results: Sixty patients with HLH (35 children and 25 adults) were included. The median age at diagnosis was 7.0 years (range, 0.1-83 years), and the median follow-up duration was 8.5 months (range, 0-204 months). Four patients had primary HLH, 48 patients had secondary HLH (20 infection-associated, 18 neoplasm-associated, and 10 autoimmune-associated HLH), and eight patients had HLH of unknown cause. Infection was the most common cause in children (14/35, 40.0%), whereas neoplasia was the most common cause in adults (13/25, 52.0%). Twenty-eight patients were treated with HLH-2004/94 immunochemotherapy. The 5-year overall survival (OS) rate for all HLH patients was 59.9%. The 5-year OS rates for patients with primary, infection-associated, neoplasm-associated, autoimmune-associated, and unknown cause HLH were 25.0%, 85.0%, 26.7%, 87.5%, and 62.5%, respectively. Using multivariate analysis, neoplasm-induced HLH (p=0.001) and a platelet count <50×10⁹/L (p=0.008) were identified as independent risk factors for poor prognosis in patients with HLH. Conclusion: Infection was the most common cause of HLH in children, while it was neoplasia in adults. The 5-year OS rate for all HLH patients was 59.9%. HLH caused by an underlying neoplasm or a low platelet count at the time of diagnosis were risk factors for poor prognosis.

Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report

Eun Mi Choi,Nani Jung,심예지,최희정,Joon Sik Kim,Heung Sik Kim,송광순,Hee Jung Lee,김상표 대한소아내분비학회 2016 Annals of Pediatirc Endocrinology & Metabolism Vol.21 No.4

A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog’s diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities. Many JCS cases with multiple Café-au-lait macules, multiple nonossifying fibromas may actually have Neurofibromatosis type-1 (NF1). Thus, comprehensive molecular analysis to exclude NF1 mutation was performed using her blood sample. The NF1 mutation was not found. Her height was under the 3rd percentile and her bone age was delayed as compared with her chronological age. Baseline growth hormone (GH) level was below the normal range. Using the insulin stimulation and levodihydroxyphenylalanine tests, GH deficiency was confirmed. We present a case of GH deficiency with typical features of ECCL and JCS.

Emicizumab prophylaxis in a Korean child with severe hemophilia A and high titer inhibitor: a case report

Ji Hyun Ahn,Nani Jung,Ye Jee Shim,Heung Sik Kim 대한혈액학회 2021 Blood Research Vol.56 No.1

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First Korean Case of 16p11.2 Duplication Syndrome Diagnosed by Chromosomal Microarray Analysis

Shim, Ye Jee,Park, So Yun,Jung, Nani,Kang, Seok Jin,Kim, Heung Sik,Ha, Jung-Sook Interdisciplinary Society of GeneticGenomic Medici 2019 Journal of interdisciplinary genomics Vol.1 No.1

A 10-year and 5 month-old girl with developmental delay, intellectual disability, attention deficit hyperactivity disorder, poor weight gain, and microcephaly was transferred to our pediatric clinic for genetic evaluation. Her height was within the 5-10th percentile, and her weight was under the 3rd percentile. On the social maturity scale, her developmental status was scored as 3 years 9 months for social age, and the social quotient was 35.98. A chromosomal microarray analysis was performed and the microduplication at chromosome 16p was observed: arr[GRCh37] 16p11.2 (29580020_30190029)${\times}3$. Currently, the patient is diagnosed with Grade 2 intellectual disability and is attending a computerized cognitive rehabilitation class twice weekly. In addition, nutritional support and growth follow up are also ensured in the Pediatric Gastrointestinal and Endocrinology clinic.