Development of Cloud-Based Telemedicine Platform for Acute Intracerebral Hemorrhage in Gangwon-do : Concept and Protocol

We aimed to develop a cloud-based telemedicine platform for patients with intracerebral hemorrhage (ICH) at local hospitals in rural and underserved areas in Gangwon-do using artificial intelligence and non-face-to-face collaboration treatment technology. This is a prospective and multi-center development project in which neurosurgeons from four university hospitals in Gangwondo will participate. Information technology experts will verify and improve the performance of the cloud-based telemedicine collaboration platform while treating ICH patients in the actual medical field. Problems identified will be resolved, and the function, performance, security, and safety of the telemedicine platform will be checked through an accredited certification authority. The project will be carried out over 4 years and consists of two phases. The first phase will be from April 2022 to December 2023, and the second phase will be from April 2024 to December 2025. The platform will be developed by dividing the work of the neurosurgeons and information technology experts by setting the order of items through mutual feedback. This article provides information on a project to develop a cloud-based telemedicine platform for acute ICH patients in Gangwon-do.

Updated Trans-Ethnic Meta-Analysis of Associations between Inflammation-Related Genes and Intracranial Aneurysm

Objective@#: We performed an expanded multi-ethnic meta-analysis to identify associations between inflammation-related loci with intracranial aneurysm (IA) susceptibility. This meta-analysis possesses increased statistical power as it is based on the most data ever evaluated. @*Methods@#: We searched and reviewed relevant literature through electronic search engines up to August 2022. Overall estimates were calculated under the fixed- or random-effect models using pooled odds ratio (OR) and 95% confidence intervals (CIs). Subgroup analyses were performed according to ethnicity. @*Results@#: Our meta-analysis enrolled 15 studies and involved 3070 patients and 5528 controls including European, Asian, Hispanic, and mixed ethnic populations. Of 17 inflammation-related variants, the rs1800796 locus (interleukin [IL]-6) showed the most significant genome-wide association with IA in East-Asian populations, including 1276 IA patients and 1322 controls (OR, 0.65; 95% CI, 0.56–0.75; p=3.24×10-9) under a fixed-effect model. However, this association was not observed in the European population (OR, 1.09; 95% CI, 0.80–1.47; p=0.5929). Three other variants, rs16944 (IL-1β), rs2195940 (IL-12B), and rs1800629 (tumor necrosis factor-α) showed a statistically nominal association with IA in both the overall, as well as East-Asian populations (0.01

Factors Associated With Subdural Hygroma Following Mild Traumatic Brain Injury / 대한신경손상학회지

Objective@#Subdural hygroma (SDG) is a complication of traumatic brain injury (TBI). In particular, the outcome and outpatient treatment period may vary depending on the occurrence of SDG. However, the pathogenesis of SDG has not been fully elucidated. Therefore, this study aimed to identify the risk factors associated with the occurrence of SDG after mild TBI. @*Methods@#We retrospectively analyzed 250 patients with mild TBI admitted to a single institution between January 2021 and December 2021. The SDG occurrence and control groups were analyzed according to the risk factors of SDG, such as age, history, initial computed tomography (CT) findings, and initial laboratory findings. @*Results@#The overall occurrence rate of SDG was 31.6% (n=79). A statistically significant association was found between preoperative diagnoses and the occurrence of SDG, such as subarachnoid hemorrhage (odds ratio [OR], 2.36; 95% confidence interval [CI], 1.26–4.39) and basal skull fracture (OR, 0.32; 95% CI, 0.12–0.83). Additionally, age ≥70 years (OR, 3.20; 95% CI, 1.74–5.87) and the use of tranexamic acid (OR, 2.12; 95% CI, 1.05–4.54) were statistically significant factors. The prognostic evaluation of patients using the Glasgow Outcome Scale (GOS) did not show any statistical differences between patients with and without SDG. @*Conclusion@#SDG was not associated with the prognosis of patients assessed using the GOS. However, depending on the occurrence of SDG, differences in patient symptoms may occur after mild TBI. Therefore, the early evaluation of patients with mild TBI and determination of the probability of developing SDG are important.

Spinal Cord Infarction After Transarterial Chemoembolization for Hepatocellular Carcinoma / 대한신경손상학회지

Transarterial chemoembolization (TACE) is an effective treatment for unresectable hepatocellular carcinoma (HCC). It is considered relatively safe. However, fatal complications such as pulmonary edema and liver abscesses can occur. Spinal infarction due to local embolism of the central nervous system after TACE is a very rare, but fatal complication. Here, we report a case of spinal cord infarction after TACE for ruptured HCC. Paraplegia occurred at the T10 sensory level 6 hours after the procedure. The patient received steroid megadose therapy but died 5 days later due to exacerbation of metabolic acidosis and blood loss. This case demonstrates the need for a comprehensive and extensive study of arterial blood flow prior to angiography.

Design of Automatic Hand Sanitizer System Compatible with Various Containers / 대한의료정보학회지

Objectives@#Demand for hand sanitizers has surged since the coronavirus broke out and spread around the world. Hand sanitizers are usually applied by squirting the sanitizer liquid when one presses a pump with one’s hand. This causes many people to come into contact with the pump handle, which increases the risk of viral transmission. Some hand sanitizers on the market are automatically pumped. However, because sanitizer containers and pump devices are designed to be compatible only between products produced by the same manufacturer, consumers must also repurchase the container for the liquid if they replace the hand sanitizer. Therefore, this paper suggests the design of an automatic hand sanitizer system compatible with various sanitizer containers. @*Methods@#An automatic hand sanitizer system was designed, which will be presented in two stages describing the instrument structure and control parts. This work focused on using the elasticity of pumps and improving people’s access to devices. @*Results@#We have designed an automatic hand sanitizer system that is compatible with various containers. When one moves one’s hand close to the device sensor, the hand sanitizer container is pumped once. @*Conclusions@#The automatic hand sanitizer device proposed in this paper is ultimately expected to contribute to contactless hand disinfection in public places and virus infection prevention. Additionally, it is economical and eco-friendly by decreasing waste emissions.

PAIVS: prediction of avian influenza virus subtype

Highly pathogenic avian influenza (HPAI) viruses have caused severe respiratory disease and death in poultry and human beings. Although most of the avian influenza viruses (AIVs) are of low pathogenicity and cause mild infections in birds, some subtypes including hemagglutinin H5 and H7 subtype cause HPAI. Therefore, sensitive and accurate subtyping of AIV is important to prepare and prevent for the spread of HPAI. Next-generation sequencing (NGS) can analyze the full-length sequence information of entire AIV genome at once, so this technology is becoming a more common in detecting AIVs and predicting subtypes. However, an analysis pipeline of NGS-based AIV sequencing data, including AIV subtyping, has not yet been established. Here, in order to support the pre-processing of NGS data and its interpretation, we developed a user-friendly tool, named prediction of avian influenza virus subtype (PAIVS). PAIVS has multiple functions that support the pre-processing of NGS data, reference-guided AIV subtyping, de novo assembly, variant calling and identifying the closest full-length sequences by BLAST, and provide the graphical summary to the end users.

PAIVS: prediction of avian influenza virus subtype

Highly pathogenic avian influenza (HPAI) viruses have caused severe respiratory disease and death in poultry and human beings. Although most of the avian influenza viruses (AIVs) are of low pathogenicity and cause mild infections in birds, some subtypes including hemagglutinin H5 and H7 subtype cause HPAI. Therefore, sensitive and accurate subtyping of AIV is important to prepare and prevent for the spread of HPAI. Next-generation sequencing (NGS) can analyze the full-length sequence information of entire AIV genome at once, so this technology is becoming a more common in detecting AIVs and predicting subtypes. However, an analysis pipeline of NGS-based AIV sequencing data, including AIV subtyping, has not yet been established. Here, in order to support the pre-processing of NGS data and its interpretation, we developed a user-friendly tool, named prediction of avian influenza virus subtype (PAIVS). PAIVS has multiple functions that support the pre-processing of NGS data, reference-guided AIV subtyping, de novo assembly, variant calling and identifying the closest full-length sequences by BLAST, and provide the graphical summary to the end users.

Two cases of ketosis-prone diabetes mellitus in Korean adolescents

In recent years, reports of diabetes mellitus (DM) cases that do not fit the traditional classification system have increased in prevalence. While insulin deficiency appears as type 1 DM (T1DM), the new type also has the clinical features of type 2 DM (T2DM); as such, this new type of DM is called ketosis-prone diabetes (KPD) and is correlated with findings of severe hyperglycemia and ketoacidosis. To provide a clear, clinical classification of DM, new classification systems are being studied. Among these, the Aβ system demonstrates the highest sensitivity and specificity in predicting clinical features and prognosis. We report 2 cases of KPD in Korean pediatric patients. The first patient was referred while in a state of diabetic ketoacidosis (DKA) and was considered to have T1DM. However, their blood glucose was well-controlled even with small doses of insulin, and the treatment was able to be changed to metformin therapy. The second patient seemed to be a typical case of T2DM because of his obesity and strong family history. However, blood glucose was not well-controlled with a regular diet, and ketosis occurred. After performing a glucagon stimulation test, both patients showed different clinical features that were finally diagnosed as type A-β+ KPD. The rapid and accurate diagnosis of KPD can reduce the duration of inappropriate insulin use and improve patients' quality of life. Further, the treatment of KPD children should be individualized according to each patient's lifestyle to preventing recurrent DKA.

Trait of Pain Killer Self-Administration among the Doctors Serving at General Hospitals Located in the Capital Area of the Republic of Korea

BACKGROUND: The aim of this study was to identify the painkillers preferred for self-administration by doctors working at general hospitals in the capital of the Republic of Korea.METHODS: We collected data, using a questionnaire, from 224 doctors working at secondary or tertiary hospitals in the capital of the Republic of Korea from July 1, 2017 to August 31, 2017. The questionnaire included questions on the preferred type of painkiller for each type of pain and the frequency of painkiller intake. Further, we evaluated the participants on the Likert scale to analyze the consideration and cognition of self-administration of painkillers.RESULTS: The doctors in this study tended to state the trade name of the painkillers rather than the generic name. They preferred acetaminophen for headache and nonsteroidal anti-inflammatory drugs for gastrointestinal (GI) pain, dysmenorrhea, toothache, and musculoskeletal pain. In the choice of painkiller for self-administration, they set utmost importance on the effectiveness of the medicine, followed by the potential side effects, physician's prescription, and the pharmacy's recommendation, in that order. The side effects attribute GI complications, hepatotoxicity, drug tolerance, and delayed diagnosis to painkiller use. There were some remarkable differences between surgeons and non-surgeons, men and women, and specialists and trainees in the conception of painkillers and pain control.CONCLUSION: This is the first study worldwide on the trait of the self-administration of painkillers by doctors, which can serve as a useful reference in clinical settings.

Treatment of Pseudoaneurysm of Internal Maxillary Artery Resulting from Needle Injury / 대한신경손상학회지

Pseudoaneurysm of internal maxillary artery (IMA) after trauma is rare, and most cases reported are caused by maxilla-facial blunt trauma. Pseudoaneurysm is discontinuity in the vascular wall leading to an extravascular hematoma that freely communicates with the intravascular space producing pulsatile hematoma rapidly. A 44-years-old woman presented with a pulsatile swelling and pain in the left parotid region. She underwent the masticatory muscle reduction using needle injection in dentistry 1 month ago. The left facial pulsatile swelling developed after the procedure immediately and uncontrolled bleeding occurred on the day of visit to our institution. We performed emergency angiography and diagnosed pseudoaneurysm of left IMA. We treated by embolization with Histoacryl Glue through left IMA. IMA total occlusion was confirmed and symptoms improved. Pseudoaneurysm following blunt trauma of the face have been reported but are few. Furthermore, there is no report of IMA pseudoaneurysm due to direct injury by needle. Recently, many cosmetic surgery procedures using injection techniques have been performed, and it is necessary to pay attention to the direct vessel injury by the needle. And endovascular therapies can give early recovery with minimal morbidity and avoids injury to the facial nerve and its branches.

Neurologic complications in patients with carotid artery stenting

OBJECTIVE: Carotid artery stenting is helpful in patients with carotid artery stenosis and is a common method of treatment. However, data on the neurological consequences that might arise from, especially Asian patients after CAS is not enough. The purpose of this study was to investigate the outcome and prognostic factors affecting CAS patients.METHODS: From January 2013 to June 2018 it was enrolled 97 patients who underwent CAS with severe carotid artery stenosis in a single institution. We retrospectively reviewed neurologic complications such as restenosis, ipsilateral or contralateral stroke, and hyperperfusion during the 6-month follow-up period.RESULTS: There were no complication occured during the procedure in all 97 patients. Neurologic complications occurred in 30 patients (30.9%) after the procedure, and ipsilateral stroke 6 (6.2%), contralateral stroke 9 (9.4%), restenosis 2 (2.1%) and hyperperfusion 13 respectively. One of them had died (1.0%), of which the rest were discharged after symptoms improve. On univariate analysis, DM and pre-op NIHSS score was associated with the risk of CAS complication, exclusively. On the binary logistic regression for risk factors, DM (OR 0.144, 95% CI [0.029–0.718]), history of radiotheraphy (OR 36.103, 95% CI [1.009–1291.789]) and preoperative NIHSS (OR 1.266, 95% CI [1.059–1.513]) showed independent risk factors associated with post procedural neurological complications, statistically.CONCLUSION: Carotid artery stenting is a relatively safe and reliable long-term outcome for patients with carotid artery stenosis. However, careful observation should be taken after procedure immediately for any possible complications.

Bronchiolitis severity according to the infected viruses

PURPOSE: The aim of this study was to evaluate the severity of disease in children with acute bronchiolitis according to the type of infected virus. METHODS: From November 2007 to May 2015, 768 patients under 2 years of age who underwent real time-polymerase chain reaction of nasopharyngeal aspirates admitted to the Department of Pediatrics of Dongguk University Ilsan Hospital for acute bronchiolitis were enrolled. Severe bronchiolitis was defined as presence of one or more kinds among tachypnea, chest retraction, needs of O2 inhalation or ventilator care. RESULTS: The severity of bronchiolitis was increased with shorter fever duration (P < 0.001) and previous wheezing episodes (P = 0.005). In the case of single infection, respiratory syncytial virus (RSV) A only increased the severity of acute bronchiolitis (P = 0.012). However, the severity of illness decreased when RSV A coinfected with adenovirus (P = 0.034), human rhinovirus (P = 0.038), or human coronavirus NL63 (P = 0.042). On the other hand, when human rhinovirus was coinfected with enterovirus (P = 0.013) or parainfluenza 3 (P = 0.019), the severity was increased. When human metapneumovirus coinfected with human bocavirus, the severity was increased (P = 0.038). CONCLUSION: Acute bronchiolitis was associated with increased severity only when RSV A infected solely, but several viruses increased or decreased the severity when coinfection occurred. Therefore, it may be helpful in predicting the course of the acute bronchiolitis according to the affected virus.

Giant Sellar Xanthogranuloma after Surgical Treatment of Symptomatic Rathke's Cleft Cyst

Extremely massive sellar xanthogranuloma (XG) are rare, and the surgical outcome and prognosis are not well known. XG remain unknown whether they are derived from Rathke's cleft cysts (RCCs) or craniopharyngiomas (CPs) following extensive inflammation and metaplasia, to the point that no epithelium is readily identifiable. These lesions usually tend to occur in younger patients (mean 28.3 years), have a smaller diameter, and remain primarily intrasellar region with infrequent calcification. This 36-year-old man presented our hospital with visual deterioration. At the time of visit, there were no neurological problems other than visual field defect and hormonal disorder. He visited our hospital in 2007 due to headache and decreased vision, and underwent transphenoid surgery for pituitary RCC. Since then, he has received treatment at our hospital for postoperative hormonal disorders. Through preoperative imaging study, the author suspected CP and underwent surgery. During the operation, the adhesion of the tumor to the surrounding major neurovascular structures was severe in the naked eyes, but the tumor could be removed more easily than expected. The postoperative histological findings were confirmed as XG. The postoperative course was uneventful. Compared to the previous literature, this case is a case where the size of XG is very large in a sellar region and it can be proved that it originated from the RCC. And regular follow-up is necessary to confirm the prognosis after surgery.

Neurodevelopmental Prognostic Factors in 73 Neonates with the Birth Head Injury / 대한신경손상학회지

OBJECTIVE: The objective of this study was to reinterpret the neurodevelopmental prognostic factors that are associated with birth head injury by performing a long-term follow-up. METHODS: Seventy-three neonates with head injuries were retrospectively analyzed after a duration of 10.0±7.3 years to determine the correlations between perinatal factors, including gender, head circumference, gestational age, body weight, and mode of delivery, and head injury factors from radiologic imaging with social, fine motor, language, and motor developmental quotients. RESULTS: There was a statistically significant difference between perinatal factors and head injury factors with respect to head circumference, body weight, gestational age, mode of delivery, Apgar scores at 1 min, cephalohematoma, subdural hemorrhage, subarachnoid hemorrhage, and hypoxic injury, but no direct correlation by regression analysis was observed between perinatal factors and developmental quotients. Of the head injury factors, falx hemorrhage showed a significant indirect relationship with the language and motor developmental quotients. Mode of delivery, subgaleal hematoma, cephalohematoma, greenstick skull fracture, epidural hemorrhage (EDH), tentorial hemorrhage, brain swelling, and hypoxic injury showed an indirect relationship with social development. CONCLUSION: In terms of perinatal factors and head injury factors, mode of delivery, subgaleal hematoma, cephalohematoma, greenstick skull fracture, EDH, tentorial hemorrhage, falx hemorrhage, brain swelling, and hypoxic injury displayed an indirect relationship with long-term development, and therefore these factors require particular attention for perinatal care.

The Risk Factors of Subdural Hygroma after Decompressive Craniectomy / 대한신경손상학회지

OBJECTIVE: Subdural effusion, also known as subdural hygroma (SDG), is a secondary complication that can occur after decompressive craniectomy (DC). However, the pathogenesis of SDG is not fully understood. It is unclear whether SDG occurrence is related to preoperative patient status or surgical technique. The purpose of this study is to identify risk factors for SDG after DC. METHODS: Fifty-nine patients who underwent DC from January 2016 to December 2016 at the same institution were analyzed. We retrospectively reviewed the clinical and radiological features of the patients. We divided the patients into two groups based on the occurrence of SDG after DC. The risk factors for SDG were analyzed. RESULTS: The overall SDG rate after DC was 39% (23 patients). A statistically significant association was observed between preoperative diagnosis, e.g., subdural hemorrhage (SDH; odds ratio [OR], 4.99; 95% confidence interval [CI], 1.36–18.34) or subarachnoid hemorrhage (SAH; OR, 4.18; 95% CI, 1.07–16.32), and the occurrence of SDG after DC. Traumatic brain injury (OR, 4.91; 95% CI, 1.35–17.91) and preoperative cortical opening (OR, 4.77; 95% CI, 1.39–16.32) were important risk factors for SDG. Several surgical techniques did not show a statistically significant association with SDG. The occurrence of SDG after DC was related to the length of hospital stay (p=0.012), but not to prognosis. CONCLUSION: After DC, SDG is not related to patients' prognosis but to the length of hospital stay. Therefore, it is necessary to study the occurrence of postoperative SDG by confirming the presence of preoperative SDH, SAH, and cortical opening.

Clinical Features and Laboratory Findings in Children Diagnosed with Benign Acute Childhood Myositis (BACM) / 대한소아신경학회지

PURPOSE: This study was performed to review the relationship between the clinical features and laboratory findings of patients suspected of benign acute childhood myositis (BACM) in children and adolescents with bilateral calf pain and gait disturbances. METHODS: From January 1, 2010 to December 31, 2016, the clinical and laboratory findings of patients who visited Dongguk University Ilsan Hospital with the sudden onset fever and muscle pain were retrospectively examined. RESULTS: The total number of patients was 29 (21 males and 8 females), and their mean age was 5.5 years. The mean duration of fever was 4.2 days. The mean duration from the onset of fever to show the symptom was 3.2 days. The mean recovery period from myositis was 2.4 days. The mean duration of hospitalization was 2.2 days. Fever and bilateral calf pain were the most common symptoms; however, cough, rhinorrhea, sore throat, headache, and abdominal pain were also observed. The causative agent of BACM was influenza B infection in 23 (79.3%) of the cases. Creatinine phosphokinase (CPK), myoglobin, aspartate aminotransferase (AST), and alanine transaminase (ALT) values were higher in the shorter duration of fever and were statistically significant. The following values were noted: CPK (r=−0.472), myoglobin (r=−0.472), AST (r=−0.443), and ALT (r=−0.459). The longer the pain period, the lower the white blood cell (WBC) count (r=−0.655). CONCLUSION: BACM is mostly associated with the influenza B virus. Time to onset of symptoms after fever and WBC levels are related to muscle enzyme levels and duration of symptoms in BACM.

Relationship between Horse Racing Addiction and Health Status Indicators

BACKGROUND@#The purpose of this study is to investigate relationship between the horse racing addiction and the health status indicators.@*METHODS@#Surveys were conducted with visitors of the Korea Racing Association in Gyeonggi-do, from September 1 to September 24, 2017. We used the questionnaire, which contains questions to assess the horse racing addiction, mood depression, health-related quality of life, smoking amount, alcohol dependency, etc. Survey data were analyzed through t-test, chi-square test, logistic regression analysis, and multiple regression analysis by SPSS program (IBM Corp., Chicago, IL, USA).@*RESULTS@#The pathological gambling group was 47.5% (n=38) of the visitors, and they showed a different racecourse use behavior compared to the normal group. In addition, we found that the pathological gambling group had a significantly different health-related quality of life score and a depression score from the normal group, and that the addiction score and the depression score had a linear correlation.@*CONCLUSIONS@#Among the racecourse visitors, the ratio of the pathological gambler was considerably high, and the pathological gambling group showed different health-related quality of life score and a depression score compared to the normal group; especially, the depression score has a significant correlation with horse racing addiction. Therefore, the horse racing association and the health authorities should recognize the seriousness of the horse racing addiction, make an effort to select high risk users, and prepare a program to prevent pathological gambling.

Relationship between Horse Racing Addiction and Health Status Indicators

BACKGROUND: The purpose of this study is to investigate relationship between the horse racing addiction and the health status indicators. METHODS: Surveys were conducted with visitors of the Korea Racing Association in Gyeonggi-do, from September 1 to September 24, 2017. We used the questionnaire, which contains questions to assess the horse racing addiction, mood depression, health-related quality of life, smoking amount, alcohol dependency, etc. Survey data were analyzed through t-test, chi-square test, logistic regression analysis, and multiple regression analysis by SPSS program (IBM Corp., Chicago, IL, USA). RESULTS: The pathological gambling group was 47.5% (n=38) of the visitors, and they showed a different racecourse use behavior compared to the normal group. In addition, we found that the pathological gambling group had a significantly different health-related quality of life score and a depression score from the normal group, and that the addiction score and the depression score had a linear correlation. CONCLUSIONS: Among the racecourse visitors, the ratio of the pathological gambler was considerably high, and the pathological gambling group showed different health-related quality of life score and a depression score compared to the normal group; especially, the depression score has a significant correlation with horse racing addiction. Therefore, the horse racing association and the health authorities should recognize the seriousness of the horse racing addiction, make an effort to select high risk users, and prepare a program to prevent pathological gambling.

Differences in Clinical Manifestations and Treatment Responses in Influenza Type A and B in a Single Hospital during 2013 to 2015

PURPOSE: We suspect there is a difference in the clinical manifestations and treatment response to antiviral drugs for influenza A and B. This study was conducted to investigate this difference. METHODS: We collected information on pediatric patients, infected with the influenza virus, admitted to Dongguk University Ilsan Hospital from October 2013 to May 2015. We investigated the clinical manifestations of influenza and differences in treatment response to oseltamivir treatment for the two types of influenza. RESULTS: A total of 138 patients were included. The mean age was 3.5±4.0 years. When comparing the diseases associated with influenza A and B, croup (19.2% vs. 1.7%, P=0.001) was more common with influenza A infection. Myositis (0% vs. 6.7%, P=0.021) and gastroenteritis (29.5% vs. 46.7%, P=0.038) were more common with influenza B infection. When comparing the total fever duration from the start of oseltamivir administration, patients treated with oseltamivir within 2 days of fever had the shortest duration. Among the patients treated with oseltamivir, the duration of fever, after the start of oseltamivir treatment, for was shorter for influenza A infection than for influenza B infection (16.0±19.1 hours vs. 28.9±27.9 hours, P=0.006). CONCLUSIONS: There appear to be differences in the accompanying diseases and antiviral medication responses between the two types of influenza. It is important to administer oseltamivir within 2 days of fever.

Circulating Tumor DNA in a Breast Cancer Patient's Plasma Represents Driver Alterations in the Tumor Tissue

Tumor tissues from biopsies or surgery are major sources for the next generation sequencing (NGS) study, but these procedures are invasive and have limitation to overcome intratumor heterogeneity. Recent studies have shown that driver alterations in tumor tissues can be detected by liquid biopsy which is a less invasive technique capable of both capturing the tumor heterogeneity and overcoming the difficulty in tissue sampling. However, it is still unclear whether the driver alterations in liquid biopsy can be detected by targeted NGS and how those related to the tissue biopsy. In this study, we performed whole-exome sequencing for a breast cancer tissue and identified PTEN p.H259fs*7 frameshift mutation. In the plasma DNA (liquid biopsy) analysis by targeted NGS, the same variant initially identified in the tumor tissue was also detected with low variant allele frequency. This mutation was subsequently validated by digital polymerase chain reaction in liquid biopsy. Our result confirm that driver alterations identified in the tumor tissue were detected in liquid biopsy by targeted NGS as well, and suggest that a higher depth of sequencing coverage is needed for detection of genomic alterations in a liquid biopsy.