Canavan disease(CD) is a rare autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase and the accumulation in brain of N-acetylaspartate(NAA). CD has been reported mainly Ashkenazi Jews but also occurs in other ethnic groups. Usually it presents as early as the third month of life with megalencephaly, hypotonia later progressing to hypertonia, psychomotor and mental retardation, blindness, occasionally deafness and seizure. Diagnosis is based on the clinical feature, N-acetylaspartic aciduria, radiologic and pathologic findings. Histologically, the affected white matter shows extensive vacuolation and demyelination. There is no treatment for CD and the only prevention is through genetic counselling and prenatal diagnosis. We experienced a case of Canavan disease that was presented with hypotonia and developmental delay. Diagnosis was confirmed histologically. Radiologic findings are extensive high signal throughout the white matter on T2-weighted MRI and increased NAA peak and decreased choline peak of the white matter on MR spectroscopy.
Blindness ; Brain ; Canavan Disease* ; Choline ; Deafness ; Demyelinating Diseases ; Diagnosis ; Ethnic Groups ; Humans ; Intellectual Disability ; Jews ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Muscle Hypotonia ; Prenatal Diagnosis ; Seizures

PURPOSE: To find the effect of visual feedback of head angle with using a mobile posture-aware system on craniocervical angle and neck and shoulder muscles fatigue for preventing or decreasing the forward head posture. METHODS: Twenty-four healthy young adults in Chungbuk to participate in this study. The subjects started to watch a movie clip for 10 minutes with visual feedback in 0°, 30°, and 60° of head angles. During the task, surface electromyography (EMG) was used to collect data from the upper trapezius (UT), sternocleidomasetoid muscle (SCM), cervical erecter spinae (CES) during watching the smartphone. Craniocervical angles were measured using a sagittal-view photograph of the subject in a sitting posture. A one-way repeated analysis of variance with a significant level of 0.05 used for statistical analysis. RESULTS: Craniocervical angle with 0° visual feedback was significantly greater than 30°and 60°. Craniocervical angle with 30° visual feedback was significantly greater than 60°. In addition, MDF of UT muscles in 0° and 30° of visual feedback was significantly greater than 60°. CONCLUSION: We concluded that 0° visual feedback of head angle with using a mobile posture-aware system would be beneficial to prevent or decrease forward head posture during watching a smartphone. We also could recommend using of 30° visual feedback in case of caring UT muscle fatigue primarily.
Chungcheongbuk-do ; Electromyography ; Fatigue* ; Feedback, Sensory* ; Head* ; Humans ; Muscle Fatigue ; Muscles* ; Neck* ; Posture ; Shoulder* ; Smartphone* ; Superficial Back Muscles ; Young Adult

Background: Reversal of neuromuscular blockade (NMB) at the end of surgery is important for reducing postoperative residual NMB; this is associated with an increased risk of postoperative pulmonary complications (PPCs). Moreover, PPCs are associated with poor prognosis after video-assisted thoracoscopic surgery (VATS) for lobectomy. We compared the effects of two reversal agents, sugammadex and neostigmine, on the incidence of PPCs and duration of hospital stay in patients undergoing VATS lobectomy. Methods: After VATS lobectomy was completed under neuromuscular monitoring, the sugammadex group (n = 46) received sugammadex 2 mg/kg, while the neostigmine group (n = 47) received neostigmine 0.05 mg/kg with atropine 0.02 mg/kg after at least the third twitch in response to the train of four stimulation. The primary outcome was incidence of PPCs. The secondary outcomes were duration of hospital stay and intensive care unit (ICU) admission. Results: There was no significant difference in the incidence of PPCs for both the sugammadex and neostigmine groups (32.6% and 40.4%, respectively; risk difference = 0.08; 95% confidence interval = [−0.12, 0.27]; P = 0.434). The lengths of hospital (P = 0.431) and ICU (P = 0.964) stays were not significantly different between the two groups. Conclusions The clinical use of sugammadex and neostigmine in NMB reversal for patients undergoing VATS lobectomy was not significantly different in the incidence of PPCs and duration of hospital and ICU stay.

The goal of this review is to present the similarities and differences among the latest guidelines for noninvasive diagnosis of hepatocellular carcinoma (HCC) of American Association for the Study of Liver Disease (AASLD), European Association for the Study of the Liver (EASL), Liver Imaging Reporting and Data System (LI-RADS), Asian Pacific Association for the Study of the Liver (APASL), and Korean Liver Cancer Association-National Cancer Center (KLCA-NCC) of Korea. In 2018, major guideline updates have been proposed by the AASLD, EASL and KLCA-NCC; AASLD newly incorporated LI-RADS into their HCC diagnostic algorithm. The AASLD and EASL guidelines now include magnetic resonance imaging (MRI) using hepatobiliary contrast media as a first-line diagnostic test in addition to dynamic computed tomography and MRI using extracellular contrast media and the KLCA-NCC and EASL guidelines also include contrast-enhanced ultrasound as a second-line diagnostic test. We will comprehensively review the HCC surveillance and diagnostic algorithms and compare and highlight key features for each guideline. We also address limitations of current systems for the noninvasive diagnosis of HCC.
Asian Continental Ancestry Group ; Carcinoma, Hepatocellular ; Contrast Media ; Diagnosis ; Diagnostic Tests, Routine ; Humans ; Information Systems ; Korea ; Liver ; Liver Diseases ; Liver Neoplasms ; Magnetic Resonance Imaging ; Ultrasonography

Cerebral palsy is the most common motor disorder in childhood. In cerebral palsy, spasticity can be a very disabling feature: limited locomotor abilities, contracture and gait difficulty. We present two cases of cerebral palsy patients who had treated with oral medication and chemodenervation with the Botulinum toxin A or alcohol but could not walk independently. We performed percutaneous selective radiofrequency thermocoagulation in the tibial motor nerve branch under the general anesthesia. The degree of spasticity, which was measured with modified Ashworth scale and modified Tardieu scale, was reduced and recurrence of the spasticity wasn't seen untill 6 months. Percutaneous selective radiofrequency thermocoagulation could be a treatment option for spasticity of cerebral palsy with little adverse effect.
Anesthesia, General ; Botulinum Toxins ; Cerebral Palsy ; Contracture ; Electrocoagulation ; Gait ; Humans ; Muscle Spasticity ; Nerve Block ; Recurrence

Objectives: ：The purpose of this study was to investigate the effect of adult Attention-Deficit/Hyperactivity Disorder (ADHD) tendency on cognitive functions in the group of depression. Methods: ：117 male patients with depression (51 with adult ADHD and 66 with adult non-ADHD) were recruited in this study. All patients were subject to the following tests : Korean Wechsler Adult Intelligence Scale-IV (K-WAIS-IV), Executive Intelligence Test, Rey-Kim memory test, Beck’s Depression Inventory II (BDI-II), and Beck’s Anxiety Inventory (BAI), Adult ADHD Self-Report Scale (ASRS), Lee Ji-Yeon’s adult ADHD scale. Results: ：Compared to the adult non-ADHD group, the adult ADHD group showed lower score in Rey-Kim memory test. Several test scores were negatively correlated with ASRS (free recall test trial 2 : r=-0.184, p=0.047, trial 3 : r=-0.277, p=0.002, trial 4 : r=-0.242, p=0.009, trial 5 : r=-0.264, p=0.004, delayed recall test : r=-0.187, p=0.044, recognition test : r=-0.209, p=0.024). No significant correlation was found between depression, anxiety and Rey-Kim memory test even though there is a meaningful correlation between adult ADHD tendency the severity of depression and anxiety. Conclusion ：In this study, we found the adult ADHD with depression group has difficulties in retaining information and maintaining attention. Interestingly, it was proved the difference comes from ADHD tendency, not from the severity of depression or anxiety.

Objective: The aims of this study were to determine the prevalence of deep vein thrombosis (DVT) and assess the association of concomitant DVT and unfavorable outcomes in patients with acute symptomatic pulmonary embolism (PE). Methods: We conducted a retrospective analysis of patients with acute symptomatic PE by a computed tomography angiography. Study patients were divided into two groups, including unfavorable and favorable outcome groups. Baseline characteristics and radiologic findings were compared between the two groups. Then, binary logistic regression analysis using the unfavorable outcome as a dependent variable was performed to assess whether concomitant DVT was associated with unfavorable outcomes. Results: Of the 128 patients, 67.2% (86 of 128) had concomitant DVT, and 20.3% (26 of 128) had an unfavorable outcome. The median age was 75.0 years (interquartile range, 63.0-82.0 years), and 76 (59.4%) patients were female. Concomitant DVT and proximal DVT were associated with unfavorable outcomes (P<0.05). In multivariate analysis, proximal DVT (adjusted odds ratio, 7.03; 95% confidence interval, 1.01-49.12) was an independent risk factor of unfavorable outcome. Conclusion In patients with acute symptomatic PE, about two-thirds of patients had DVT. This study suggests that proximal DVT is significantly associated with unfavorable outcomes.

47,XYY males are found in approximately 1 per 1,000 men. There is no significant difference in intelligence compared with a normal karyotype group. 47,XYY males are fertile and are considered to be relatively tall in stature owing to the increased growth velocity during the earliest childhood. It has been known that 47,XYY males are usually quite normally developed at birth with normal birth weight and length without any physical abnormalities. We have experienced a case of 47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly and we report the case with brief review of the literature. A 31-year-old woman, who had terminated her first pregnancy due to limb anomaly at 24 weeks gestation, received ultrasonography at about 16 weeks gestation and was found having a fetus with increased nuchal fold, choroid plexus cyst and limb anomaly. Through the genetic counselling, her pregnancy was terminated and the chromosome karyotyping was performed with the fetal tissue and parent's peripheral blood. The results revealed that the parents had normal karyotypes, but the karyotype of the fetus showed 47,XYY.
Adult ; Birth Weight ; Choroid Plexus* ; Choroid* ; Extremities* ; Female ; Fetus ; Humans ; Intelligence ; Karyotype ; Karyotyping ; Male* ; Nuchal Translucency Measurement* ; Parents ; Parturition ; Pregnancy ; Ultrasonography

PURPOSE: The serum ammonia level was postulated as a surrogate marker for severe neurotoxicity in glufosinate ammonium (GLA) poisoning. The aim of this study is to evaluate whether the level of serum ammonia can predict delayed neurologic complications in patients with GLA poisoning presented with alert mentality. METHODS: Thirty-six GLA-poisoned patients presented to our emergency department with alert mentality initially were analyzed retrospectively. The baseline characteristics, laboratory findings, ammonia level (initial and second ammonia level, frequency of hyperammonemia, and difference of ammonia level), and clinical outcomes were compared between non-neurologic (n=16) and neurologic complication groups (n=20). RESULTS: Neurologic complications occurred in 20 patients (55.6%) with 14.3 hours (median) of latent period. The initial ammonia level and frequency of initial hyperammonemia did not show any difference between the two groups. However, the difference of ammonia level between the 2nd and 1st samples was an independent predictor of delayed neurologic complication (adjusted odds ratio; 1.184 (95% confidence interval (CI); 1.01-1.387, p=0.037)). The area under the curve and cut-off point of the difference of ammonia level for the prediction of delayed neurologic complication was 0.936 (95% CI; 0.756-0.992) and 15.4 umol/L respectively. CONCLUSION: The difference of ammonia level rather than the initial ammonia level could be used to predict delayed neurologic complication in GLA-poisoned patients presented with alert mentality.
Ammonia* ; Ammonium Compounds* ; Biomarkers ; Emergency Service, Hospital ; Humans ; Hyperammonemia ; Odds Ratio ; Poisoning* ; Retrospective Studies

BACKGROUND AND OBJECTIVES: There are limited published data on the incidence and cost associated with cardiac implantable electrical device (CIED) infection for Asian patients. We analyzed the infection burden associated with the implantation of CIEDs in Korea. METHODS: In the Health Insurance Review & Assessment Service (HIRA) database during the period from January 1, 2014 to December 31, 2016, we identified 16,908 patients with CIED implantation. CIED infection was defined as either: 1) Infection-related diagnosis code by the Korean Standard Classification of Diseases after any CIED procedure; or 2) CIED removal along with systemic infection. RESULTS: The proportions of first implantation and replacement were 77.6% and 22.4%, respectively. During the follow-up period of 17.1±10.6 months, a total of 462 patients had CIED infection with incidence of 1.95 per 100 person-years with higher infection rate in replacement than first implantation (3.97 vs. 1.4 per 100 person-years, p<0.001). The average cost per person was US$ 16,584 (pacemaker, $13,736; implantable cardioverter defibrillator, $28,402; cardiac resynchronization therapy, $29,674). The risk factors of CIED infection were generator replacement (adjusted hazard ratio [aHR], 3.14; 95% confidence interval [CI], 2.60–3.78), diabetes mellitus (aHR, 1.94; 95% CI, 1.58–2.38), and congestive heart failure (aHR, 1.86; 95% CI, 1.51–2.28). CONCLUSIONS: The rate of CIED infection in Korea was 1.95 per 100 person-years with average cost of US$ 16,584. The most important risk factor was generator replacement. This result suggests that generator replacement should be performed cautiously to avoid CIED infection.
Asian Continental Ancestry Group ; Cardiac Resynchronization Therapy ; Classification ; Cohort Studies ; Defibrillators ; Defibrillators, Implantable ; Diabetes Mellitus ; Diagnosis ; Follow-Up Studies ; Heart Failure ; Humans ; Incidence ; Insurance, Health ; Korea ; Risk Factors