Defects in aminoacyl-tRNA synthetase cause partial B and T cell immunodeficiency.

Aminoacyl-tRNA synthetases (ARSs) are emerging as important regulators in various immune diseases; however, their roles in immune cells remain unclear. In this study, using alanyl-tRNA synthetase (AARS) mutant (sti) mice with neurodegenerative disorder, we investigated the effect of translational fidelity in immune cells. Dysfunctional AARS caused disorders in immune cell responses and cellularity.

Different Metabolomic and Proteomic Profiles of Cerebrospinal Fluid in Ventricular and Lumbar Compartments in Relation to Leptomeningeal Metastases.

The different molecular profiles of cerebrospinal fluid (CSF) between ventricular and lumbar compartments remain elusive, especially in the context of leptomeningeal metastasis (LM), which affects CSF flow. We evaluated CSF metabolomic and proteomic profiles based on the compartments and the diagnosis of spinal LM, proved by MRI from 20 paired ventricular and lumbar CSF samples of LM patients, including 12 spinal LM (+) samples. In metabolome analysis, 9512 low-mass ions (LMIs) were identified-7 LMIs were abundant in all lumbar versus paired ventricular CSF samples, and 3 LMIs were significantly abundant in all ventricular CSF.

Experimental Assessment of Leptomeningeal Metastasis Diagnosis in Medulloblastoma Using Cerebrospinal Fluid Metabolomic Profiles.

Diagnosing leptomeningeal metastasis (LM) in medulloblastoma is currently based on positive cerebrospinal fluid (CSF) cytology or magnetic resonance imaging (MRI) finding. However, the relevance of discordant results has not been established. We evaluated the diagnostic potential of CSF metabolomic profiles in the medulloblastoma LM assessment.

Influenza-associated Neurologic Complications in Hospitalized Pediatric Patients: A Multicenter Retrospective Study in Republic of Korea.

Background: The rates of influenza-associated neurologic complications are variable among studies, and a difference has been observed between the Western and Asian countries. The study aims to evaluate the frequency and characteristics of influenza-associated neurologic complications.

Methods: We performed a retrospective review of hospitalized cases of influenza infection from October 2010 to April 2017 from 3 referral hospitals.

Comparative cerebrospinal fluid metabolites profiling in glioma patients to predict malignant transformation and leptomeningeal metastasis with a potential for preventive personalized medicine.

Glioma shows progression presenting as malignant transformation or leptomeningeal metastasis (LM). However, longitudinal biopsy of brain parenchyma is difficult due to its critical location, whereas cerebrospinal fluid (CSF) can be obtained serially with a little invasiveness of puncture. Thus, if we could find a biomarker for glioma progression, we could predict such event and determine therapeutic interventions as early as possible.

Associations between dietary habits, emotional state and subjective oral symptoms in 62,276 South Korean adolescents.

Objective: The purpose of this study was to investigate the associations between dietary habits, emotional states, and subjective oral symptoms in Korean adolescents.

Methods: Data from 62,276 adolescents were derived from the 13th Korean Youth Risk Behavior Web-based Survey, conducting from June 1, 2017 to June 30, 2017. Oral symptoms were assessed by asking students whether they had experienced any of following symptoms within the last 12 months: (i) have you had a crack in your teeth or had any broken teeth not caused by exercise or other accidents?, (ii) have you experienced any toothaches while drinking or eating cold or hot beverages or foods?, (iii) have you ever felt throbbing in your teeth?, and (iv) have you experienced any gum pain or gum bleeding? A multivariable Poisson regression model for prevalence ratio (PR) was conducted.

Health-related behaviors and mental health states of South Korean adolescents with atopic dermatitis.

Atopic dermatitis (AD) is a common chronic skin disease with a negative influence on adolescent mental health state. We aimed to identify the influencing factors for mental health in adolescents with AD. We used data from the 13th Korean Youth Risk Behavior Web-based Survey (KYRBS) conducted in 2017.

Influencing Factors for Influenza Vaccination among South Korean Adolescents with Asthma Based on a Nationwide Cross-Sectional Study.

Background: Influenza viral infection is a major public health problem with significant morbidity and mortality.Asthma is a risk factor for developing serious complications related to influenza infection.

Objective: We explored factors associated with influenza vaccination coverage among adolescents with asthma.

Are there effects of lunar cycle on pediatric febrile seizure?: A single-center retrospective study (2005-2018).

Background: Several studies have reported an association between seizure and the lunar cycle; however, results are conflicting. Thus, we investigated whether emergency department (ED) visits due to febrile seizure (FS) or FS plus were affected by lunar cycle.

Methods: We reviewed the medical records of patients who were admitted to the ED with a main diagnosis of FS or FS plus from January 1, 2005 to August 31, 2018 (13 years 8 months), a period of 4991 days with 169 lunar cycles.

Hyperammonemia in a case of herpes simplex and anti-N-methyl-d-aspartate receptor encephalitis.

Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of anti-NMDAR encephalitis; this patient showed subsequent recurrent, unexplained episodes of encephalopathy associated with hyperammonemia.

Usefulness of the procalcitonin test in young febrile infants between 1 and 3 months of age.

Purpose: To study the usefulness of the procalcitonin (PCT) test in young febrile infants between 1 and 3 months of age.

Methods: We evaluated the medical records of 336 febrile infants between 1 and 3 months of age who visited the Emergency Department or outpatient department of Samsung Changwon Hospital from May 2015 to February 2017, and analyzed the clinical characteristics between infants in the serious bacterial infection (SBI) group and non-SBI group.

Results: Among the 336 infants, 38 (11.

Individualized metabolic profiling stratifies pancreatic and biliary tract cancer: a useful tool for innovative screening programs and predictive strategies in healthcare.

Background: Pancreatic cancer (PC) and biliary tract cancer (BTC) are highly aggressive cancers, characterized by their rarity, difficulty in diagnosis, and overall poor prognosis. Diagnosis of PC and BTC is complex and is made using a combination of appropriate clinical suspicion, imaging and endoscopic techniques, and cytopathological examination. However, the late-stage detection and poor prognosis of this tumor have led to an urgent need for biomarkers for early and/or predictive diagnosis and improved personalized treatments.

Effect of Statins on Survival Following Stroke in Patients With Cancer.

The objective of this study was to investigate the potential benefits of statin therapy initiation in acute stroke in patients with active cancer. This study was conducted in two parts. First, data from patients who are presented with stroke and active cancer were obtained from prospectively collected multicenter hospital-based stroke registries.

Cerebrospinal fluid metabolomic profiles can discriminate patients with leptomeningeal carcinomatosis from patients at high risk for leptomeningeal metastasis.

Purpose: Early diagnosis of leptomeningeal carcinomatosis (LMC) is necessary to improve outcomes of this formidable disease. However, cerebrospinal fluid (CSF) cytology is frequently false negative. We examined whether CSF metabolome profiles can be used to differentiate patients with LMC from patients having a risk for development of LMC.

Profiling of Serum Metabolites Using MALDI-TOF and Triple-TOF Mass Spectrometry to Develop a Screen for Ovarian Cancer.

Purpose: We sought to develop a matrix assisted laser desorption ionization-time of flight (MALDI-TOF)-based, ovarian cancer (OVC), low-mass-ion discriminant equation (LOME) and to evaluate a possible supportive role for triple-TOF mass analysis in identifying metabolic biomarkers.

Materials And Methods: A total of 114 serum samples from patients with OVC and benign ovarian tumors were subjected to MALDI-TOF analysis and a total of 137 serum samples from healthy female individuals and patients with OVC, colorectal cancer, hepatobiliary cancer, and pancreatic cancer were subjected to triple-TOF analysis. An OVC LOME was constructed by reference to the peak intensity ratios of discriminatory low-mass ion (LMI) pairs.

The effects of weather on pediatric seizure: A single-center retrospective study (2005-2015).

Background: Several studies have reported an association between seizure and the weather. However, reports are conflicting. Thus, we investigated whether emergency department visits due to seizure are affected by weather.

A young child of anti-NMDA receptor encephalitis presenting with epilepsia partialis continua: the first pediatric case in Korea.

Anti--methyl D-aspartate receptor (anti-NMDAR) encephalitis, recently recognized as a form of paraneoplastic encephalitis, is characterized by a prodromal phase of unspecific illness with fever that resembles a viral disease. The prodromal phase is followed by seizures, disturbed consciousness, psychiatric features, prominent abnormal movements, and autonomic imbalance. Here, we report a case of anti-NMDAR encephalitis with initial symptoms of epilepsia partialis continua in the absence of tumor.

Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk.

We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid chromatography-tandem mass spectrometry (LC-MS/MS), but normal results were found on urine organic acid analysis. The patient was subjected to serial testing and we confirmed a maternal 3-MCC deficiency by blood spot and breast milk spot test by LC-MS/MS, serum amino acid analysis, urine organic acid and molecular genetic analysis that found c.

Long-term clinical course of a patient with mucopolysaccharidosis type IIIB.

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha--acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years.