Live-born cases of partial trisomy 12q are rare, and only a few fetuses with this unbalanced translocation have survived to term. To our knowledge, only about 40 patients have been reported as having 12q duplication, and among them are no Korean reports. Here, we report the first Korean case of siblings with a 12q24.22q24.33 duplication. An 11-year-old boy visited our clinic for short stature. He was born small for his gestational age and had distinctive facial features, a history of surgery for anorectal malformation, psychomotor delay, intellectual disabilities, and attention-deficit/hyperactivity disorder (ADHD). He had an older sister with similar clinical features. The chromosomal microarray of the patient and his sister showed identical results: a 16.2 Mb duplication of 12q24.22q24.33. They had an identical cutoff point, but their symptoms were not. Symptoms common to both included growth retardation, psychomotor delay, intellectual disability, ADHD, and small for their gestational age.

OBJECTIVE: Severity of nausea and vomiting of pregnancy (NVP) is associated with adverse pregnancy outcomes and poorer quality of life (QOL). The aim of this study was to evaluate the severity of NVP and maternal well-being status using the Pregnancy-Unique Quantification of Emesis and Nausea (PUQE) scale in a Korean population. METHODS: A total of 527 pregnant women who were receiving prenatal care at 4 hospitals were asked to participate in the study between January 2015 and June 2015. The severity of NVP was evaluated by the PUQE scale and maternal well-being status was evaluated using the visual analogue scale (VAS). Statistical analyses were performed to determine the risk factors associated with NVP and the associations between the severity of NVP and QOL. RESULTS: Among the 472 eligible pregnant women, 381 (80.7%) were suffering from NVP during pregnancy. No significant differences (P>0.05) were observed in any of the variables between the 2 study groups, with the exception of smoking, alcohol consumption, and history of NVP. NVP history was found to be the most powerful risk factor (adjusted odds ratio, 11.6; 95% confidence interval, 4.7–28.7). The correlation coefficient (r) between the VAS scores of maternal well-being status and PUQE severity was −0.25 (r 2=0.062; P-< 0.001). CONCLUSION: In this study, an explicit decline in maternal well-being status was observed according to severity of NVP. The PUQE scale may be of help to clinicians, healthcare providers, and researchers because of its simplicity and usefulness as a tool for NVP evaluation.
Alcohol Drinking ; Female ; Health Personnel ; Humans ; Korea ; Nausea ; Odds Ratio ; Pregnancy Outcome ; Pregnancy ; Pregnant Women ; Prenatal Care ; Quality of Life ; Risk Factors ; Smoke ; Smoking ; Visual Analog Scale ; Vomiting

OBJECTIVES: The objective of this study was to investigate the effect of pharmacological treatments for attention-deficit hyperactivity disorder (ADHD) on motor coordination, using the Developmental Coordination Disorder Questionnaire (DCDQ). METHODS: The participants were recruited from April 2015 to November 2016 from the Department of Psychiatry of Asan Medical Center and were treated for 3 months with methylphenidate or atomoxetine. The illness severity at baseline and 3 months were scored using the ADHD Rating Scale (ARS), Clinical Global Impression-Severity Scale (CGI-S) and/or Clinical Global Impression-Improvement Scale (CGI-I). A total of 39 children with ADHD (age 8.0±1.4 years, 36 boys) completed the Advanced Test of Attention (ATA) and their parents completed the DCDQ at baseline and 3 months. The paired t-test, mixed between-within analysis of variance and correlation analysis were used. RESULTS: The CGI-S (p<0.001), ARS (p<0.001), and fine motor/hand writing (p=0.005) on the DCDQ were significantly changed between pre-treatment and post-treatment. When the participants were divided into those who were suspected of having developmental coordination disorder (DCD) (n=23) and those who probably did not (n=16), the control during movement, fine motor/hand writing and general coordination scores on the DCDQ showed the main effects for group (p<0.001, p<0.001 and p<0.001, respectively). The fine motor/hand writing on the DCDQ has a significant main effect for time [F(1,37)=7.31, p=0.010, η2=0.405] and the interaction effect between group and time was also significant [F(1,37)=4.63, p=0.038, η2=0.111]. The baseline visual commission error on the ATA is significantly correlated with the changes in the DCDQ total scores (r=0.330, p=0.040). CONCLUSION: Our results provide preliminary evidence that pharmacological treatment for ADHD improves not only the core symptoms of ADHD, but also the motor coordination. Further studies are needed to confirm the effect of the pharmacological treatment for ADHD on the motor coordination.
Atomoxetine Hydrochloride ; Child ; Chungcheongnam-do ; Drug Therapy ; Humans ; Methylphenidate ; Motor Skills Disorders ; Parents ; Writing

OBJECTIVE: Several factors, such as male gender, older age, type of insurance, comorbid conditions, and medication type, have been associated with attention-deficit/hyperactivity disorder (ADHD) medication adherence rates, but the results have been inconsistent. We analyzed data to answer several questions: 1) How old were patients who first refilled their treatment medications used primarily for ADHD, regardless of the medication type? 2) What socio-demographic factors are associated with medication adherence? 3) What medical conditions, such as medication type and comorbid diagnosis, influence adherence? METHODS: We analyzed National Health Insurance data, which comprised continuously enrolled Korean National Medical Insurance children (6–18 years) with at least 2 ADHD prescription claims (January 2008–December 2011). The persistence of use regarding the days of continuous therapy without a 30-day gap were measured continuously and dichotomously. Adherence, using a medication possession ratio (MPR), was measured dichotomously (80% cut-off). RESULTS: The cumulative incidence of index cases that initiated medication refills for ADHD treatment during the 4 year period was 0.85%. The patients who exhibited a MPR greater than 80 comprised approximately 66%. The medication type, high school age groups, physician speciality, treatment at a private clinic, and comorbid conditions were associated with medication adherence during continuous treatment using a multivariate analysis. CONCLUSION: A better understanding of ADHD treatment patterns may lead to initiatives targeted at the improvement of treatment adherence and persistence. Other factors, including the severity, family history, costs, type of comorbidities, and switching patterns, will be analyzed in future studies.
Adolescent* ; Atomoxetine Hydrochloride ; Child* ; Cohort Studies* ; Comorbidity ; Compliance ; Diagnosis ; Humans ; Incidence ; Insurance ; Insurance, Health* ; Male ; Medication Adherence ; Multivariate Analysis ; National Health Programs ; Prescriptions ; Retrospective Studies*

Actinomycosis is a rare chronic suppurative infectious disease caused by Actinomyces spp. Actinomyces are anaerobic Gram-positive bacteria that colonize the mouth, digestive tract, and genital tract. Thoracic actinomycosis is caused by the aspiration of oropharyngeal materials or the spread of cervicofacial infections. Therefore, poor oral hygiene, smoking, and immunodeficiency are risk factors. Actinomycoses are frequently misdiagnosed as anatomical malignancies and thus assessments of the diseases underlying malignancies are often complicated by the presence of actinomycoses. Here, we report a case of mediastinal actinomycosis presenting with clinical and radiological features of metastatic pancreatic cancer. Clinicians should consider the presence of actinomycosis when cancer patients fail to respond to anti-cancer treatments.
Actinomyces ; Actinomycosis* ; Colon ; Communicable Diseases ; Gastrointestinal Tract ; Gram-Positive Bacteria ; Humans ; Lymph Nodes* ; Mouth ; Neoplasm Metastasis* ; Oral Hygiene ; Pancreatic Neoplasms* ; Risk Factors ; Smoke ; Smoking

OBJECTIVE: Equine-assisted activities and therapy (EAA/T) have been used as adjunct treatment options for physical and psychosocial rehabilitation. However, the therapeutic effects on resting-state brain function have not yet been studied. The aim of this study is to investigate the effects of EAA/T on participants with attention-deficit/hyperactivity disorder (ADHD) by comparing resting-state functional magnetic resonance imaging (rs-fMRI) signals and their clinical correlates. METHODS: Ten participants with ADHD participated in a 12-week EAA/T program without any medication. Two rs-fMRIs were acquired for all participants before and after EAA/T. For estimating therapeutic effect, the regional homogeneity (ReHo) method was applied to capture the changes in the regional synchronization of functional signals. RESULTS: After the EAA/T program, clear symptom improvement was found even without medication. Surface-based pairwise comparisons revealed that ReHo in the right precuneus and right pars orbitalis clusters had significantly diminished after the program. Reduced ReHo in the right precuneus cluster was positively correlated with changes in the scores on DuPaul’s ADHD Rating Scale-Korean version. CONCLUSION: Our results indicate that EAA/T is associated with short-range functional connectivity in the regions related to the default mode network and the behavioral inhibition system, which are associated with symptom improvement.
Attention Deficit Disorder with Hyperactivity ; Brain* ; Equine-Assisted Therapy ; Magnetic Resonance Imaging ; Methods ; Parietal Lobe ; Pilot Projects* ; Psychiatric Rehabilitation ; Therapeutic Uses

We evaluated the differences in utilization patterns including persistence and adherence among medications in children and adolescents with attention deficit hyperactivity disorder (ADHD). The current study was performed using data from the Korean Health Insurance Review and Assessment claims database from January 1, 2009 to December 31, 2013. Our study sample consisted of 10,343 children and adolescents with ADHD who were not given their newly prescribed medication in 360 days before the initial claim in 2010. Data were followed up from the initiation of treatment with ADHD medications in 2010 to December 31, 2013. Discontinuation rates for 4 ADHD medications in our sample ranged from 97.7% for immediate-release methylphenidate to 99.4% for atomoxetine using refill gap more than 30 days and from 56.7% for immediate-release methylphenidate to 62.3% for extended-release methylphenidate using refill gap more than 60 days. In the number of discontinued, we found significant differences among medications using refill gap more than 30 days. Among 4 ADHD medications, extended-release methylphenidate and atomoxetine had more days than immediate-release methylphenidate and osmotic-controlled oral delivery system methylphenidate. In logistic regression analyses, extended-release methylphenidate, osmotic-controlled oral delivery system methylphenidate, and atomoxetine showed less discontinuation compared to immediate-release methylphenidate group when a refill gap more than 30 days was used. In logistic regression analysis of adherence, we could not find any differences among 4 medication types. We suggest that the utilization patterns should be assessed regularly in order to improve future outcomes in children and adolescents with ADHD.
Administration, Oral ; Adolescent ; Atomoxetine Hydrochloride/therapeutic use ; Attention Deficit Disorder with Hyperactivity/*drug therapy ; Central Nervous System Stimulants/*therapeutic use ; Child ; Databases, Factual ; Drug Compounding ; Female ; Humans ; Insurance Claim Review ; Logistic Models ; Male ; Medication Adherence/*statistics & numerical data ; Methylphenidate/therapeutic use ; Odds Ratio ; Republic of Korea ; Retrospective Studies

We evaluated the differences in utilization patterns including persistence and adherence among medications in children and adolescents with attention deficit hyperactivity disorder (ADHD). The current study was performed using data from the Korean Health Insurance Review and Assessment claims database from January 1, 2009 to December 31, 2013. Our study sample consisted of 10,343 children and adolescents with ADHD who were not given their newly prescribed medication in 360 days before the initial claim in 2010. Data were followed up from the initiation of treatment with ADHD medications in 2010 to December 31, 2013. Discontinuation rates for 4 ADHD medications in our sample ranged from 97.7% for immediate-release methylphenidate to 99.4% for atomoxetine using refill gap more than 30 days and from 56.7% for immediate-release methylphenidate to 62.3% for extended-release methylphenidate using refill gap more than 60 days. In the number of discontinued, we found significant differences among medications using refill gap more than 30 days. Among 4 ADHD medications, extended-release methylphenidate and atomoxetine had more days than immediate-release methylphenidate and osmotic-controlled oral delivery system methylphenidate. In logistic regression analyses, extended-release methylphenidate, osmotic-controlled oral delivery system methylphenidate, and atomoxetine showed less discontinuation compared to immediate-release methylphenidate group when a refill gap more than 30 days was used. In logistic regression analysis of adherence, we could not find any differences among 4 medication types. We suggest that the utilization patterns should be assessed regularly in order to improve future outcomes in children and adolescents with ADHD.
Administration, Oral ; Adolescent ; Atomoxetine Hydrochloride/therapeutic use ; Attention Deficit Disorder with Hyperactivity/*drug therapy ; Central Nervous System Stimulants/*therapeutic use ; Child ; Databases, Factual ; Drug Compounding ; Female ; Humans ; Insurance Claim Review ; Logistic Models ; Male ; Medication Adherence/*statistics & numerical data ; Methylphenidate/therapeutic use ; Odds Ratio ; Republic of Korea ; Retrospective Studies

OBJECTIVES: The survival rate of all childhood cancers has been increasing, and latent effects on childhood cancer survivors have been gaining researchers' attention. It has been shown that childhood cancer survivors experience social maladaptation and a decreased quality of life. Although neuroblastoma is one of the most common solid cancers in childhood, there are few reports on psychosocial status in neuroblastoma survivors. The purpose of this study was to investigate temporal changes in psychosocial status in neuroblastoma survivors. METHODS: This study was conducted by undertaking retrospective chart reviews of neuroblastoma survivors that were treated between January 1997 and February 2016 at Samsung Medical Center, Seoul, Korea. Among the 54 survivors identified, data for 28 patients who underwent psychological evaluation before and after treatment completion were selected for further analysis. We compared intelligence score, Korea-Child Behavior Checklist (K-CBCL), and Korean Personality Rating Scale for Children (K-PRC) scores before and after treatment completion. Time derivatives for each variable were calculated to identify temporal changes in scores. RESULTS: After treatment completion, K-CBCL scores for total competence (t=−2.34, p=0.044), somatic complaints (t=−2.43, p=0.022), and thought problems (t=−3.03, p=0.006) were higher than the scores prior to treatment. Familial relationship in K-PRC was significantly improved after treatment (t=2.11, p=0.045). Time derivatives of the significant K-CBCL subscales, except for the withdrawal and externalizing symptom scores, showed a tendency to increase with time. CONCLUSION: Although familial relationship and social competence improved after treatment, the levels of somatic complaints and thought problems increased following neuroblastoma treatment.
Checklist ; Child ; Humans ; Intelligence ; Korea ; Mental Competency ; Mortuary Practice ; Neuroblastoma* ; Quality of Life ; Retrospective Studies ; Seoul ; Social Skills ; Survival Rate ; Survivors*

BACKGROUND: Critical illness that requires major surgery is often associated with non-thyroidal illness syndrome (NTIS). The characteristic feature of NTIS is low serum triiodothyronine (T3) levels, and in severe illness, the levels of serum thyroxine (T4) are also low in the absence of a rise in thyroid stimulating hormone (TSH). However, little is known about the changes in thyroid hormones during and after liver transplantation (LT). This study was conducted in order to evaluate the intra- or postoperative changes in thyroid hormones. METHODS: Twenty-two patients who underwent LT were enrolled. Serum levels of triiodothyronine (T3), thyroxine (T4), thyroid stimulating hormone (TSH), free T3 (FT3) and free T4 (FT4) were measured immediately after the induction of anesthesia (T1), at the end of the anhepatic period (T2), at the end of the surgical procedure (T3), and at 24 hours (T4) and 120 hours postoperatively (T5). RESULTS: The mean levels of T3, T4, FT3, FT4 and TSH were significantly decreased throughout the study when compared with the T1 value. The mean levels of T3, T4 FT3 and TSH were below the normal range from T2, T4 and T5. CONCLUSIONS: We suggest that LT may induce NTIS by at least postoperative day 5. In the future, longer follow-up studies, and the effects of thyroid hormones on the prognosis and determination of the advantages and disadvantages of T3 replacement therapy to these patients will be required.
Anesthesia ; Critical Illness ; Euthyroid Sick Syndromes ; Humans ; Liver Transplantation* ; Prognosis ; Reference Values ; Thyroid Hormones* ; Thyrotropin ; Thyroxine ; Triiodothyronine