OBJECTIVES: Obsessive-compulsive disorder (OCD) is a disabling psychiatric disorder, and more attention is recently paid on the quality of life (QoL) in OCD patients. The Euro-QoL-5D (EQ-5D) is a widely used self-report to calculate a single score which represents ‘health utilities’. The aim of this study was to assess the health-related QoL for patients with OCD using the EQ-5D and to examine the relationship between health-related QoL and symptom severity. METHODS: Seventy-three patients with a Diagnostic and Statistical Manual of Mental Disorders (DSM-5) diagnosis of OCD were recruited from the outpatient clinic in Seoul National University Hospital. Symptom severity was assessed using the Yale-Brown Obsessive-Compulsive Scale (YBOCS), and QoL was assessed with the EQ-5D-5L questionnaire. Using Korean valuation study, a single score of QoL was calculated. RESULTS: Most of the OCD patients were relatively young (< 45 years) with the mean YBOCS total score of 19.33. The mean EQ-5D score was 0.71 and significantly correlated with symptom severity (r = -0.483, p < 0.001). 25% of the EQ-5D score was predicted by the YBOCS total score (b = -0.011, p < 0.001) by regression analysis. CONCLUSIONS: OCD patients suffer from lower health-related QoL and QoL significantly decreased as symptom severity increased. The results of the EQ-5D would enable further studies on QoL comparison across medical disease and mental disorders.
Ambulatory Care Facilities ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Humans ; Mental Disorders ; Obsessive-Compulsive Disorder* ; Quality of Life* ; Seoul

OBJECTIVES: Obsessive-compulsive disorder (OCD) is a chronic and disabling psychiatric disorder. The duration of untreated illness (DUI) has been suggested as one of the predictors of clinical course and outcome in various psychiatric disorders. There is increasing evidence that cognitive dysfunction is associated with the prognosis of OCD. The aim of this study was to investigate the influence of DUI on the neurocognitive functions in patients with OCD. METHODS: Sixty-two patients with a DSM-IV diagnosis of OCD from the outpatient clinic were included in this study. We defined the short DUI if the DUI was 2-year or less and the long DUI if it was longer than 2-year. Neurocognitive functions were assessed by visuospatial memory function test and 4 subsets of K-WAIS such as vocabulary, arithmetic, block design and picture arrangement. Differences in neurocognitive functions as well as clinical variables between OCD patients with short DUI and those with long DUI were investigated. Correlation analyses were also performed to determine the correlation between DUI and neurocognitive functions. RESULTS: Compared with the short DUI group, the long DUI group performed worse in the block design test, which measures executive function. The long DUI group also had a higher level of compulsive symptom severity than the short DUI group. However, the DUI was not correlated with neurocognitive functions. CONCLUSIONS: Findings in this preliminary study suggest that the long DUI in patients with OCD is associated with more severe executive dysfunction. Studies with larger samples and longitudinal design are needed to further confirm the prognostic role of the DUI in OCD.
Ambulatory Care Facilities ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Executive Function ; Humans ; Memory ; Obsessive-Compulsive Disorder* ; Prognosis ; Vocabulary

BACKGROUND: We evaluated the clinical significance of revised 2008 WHO classification needed to diagnose mixed phenotype acute leukemia (MPAL). METHODS: A total of 22 MPAL patients, previously diagnosed by applying the scoring system of the European Group for Immunological Classification of Acute Leukemias (EGIL) were reclassified based on the 2008 WHO classification. RESULTS: In 2008 WHO classification, the number of monoclonal antibodies (mAbs) required for assigning more than one lineage was markedly decreased, from 26 to 11, compared with that of EGIL. Seventeen of the 22 MPAL patients were reclassified as MPAL with following details: 6 MPAL with t(9;22)(q34;q11.2); BCR-ABL1, 1 MPAL with t(v;11q23); MLL rearranged, 7 MPAL, B/Myeloid, not otherwise specified (NOS) and 3 MPAL, T/Myeloid, NOS. Five patients were excluded from MPAL in the revised classification: 4 cytoplasmic myeloperoxidase (cMPO)-negative and 1 CD19-negative. The failure of complete remission achievement and occurrence of relapse were associated with poor prognosis (P=0.0002 and P=0.009, respectively). But the presence of Philadelphia chromsome was not significantly related with patient outcome (P=0.082). One patient with cCD79a, CD20, CD38, cMPO and CD15, whose diagnosis was reclassified from MPAL to AML has survived during the study period. CONCLUSIONS: Because of decreased number of mAbs needed, it is possible that acute leukemia panel is designed to include all mAbs required to diagnose MPAL according to 2008 WHO classification. When diagnosing MPAL, it is critical to figure out positivity in either cMPO or CD19, and AML expressing more than 2 lymphoid antigens are considered as MPAL.
Acute Disease ; Adolescent ; Adult ; Aged ; Antibodies, Monoclonal/immunology ; Child ; Chromosomes, Human ; Female ; Fusion Proteins, bcr-abl/metabolism ; Humans ; Infant ; Leukemia/classification/*diagnosis/mortality ; Male ; Middle Aged ; Phenotype ; Philadelphia Chromosome ; Survival Analysis ; World Health Organization

Diamond-Blackfan anemia (DBA) is a rare congenital erythroid hypoplastic anemia that usually presents early in infancy and is inherited in up to 45% of cases. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids and red blood cell transfusions are the mainstays of therapy. We describe a case of 3-month-old infant who presented with severe anemia, elevated levels of HbF and adenosine deaminase and bilateral hydronephrosis, who was later confirmed as DBA by mutation analysis using the direct sequencing method. Direct sequencing analysis of RPS19 gene was performed with both cDNA and genomic DNA extracted from peripheral blood and a c.3G>A point mutation of exon 2 resulting in p.Met1Ile was identified in this patient. The patient showed an inadequate response to steroid therapy and a partial response to RBC transfusion with a follow-up Hb level of 8.3 g/dL on her last visit to the outpatient clinic. DBA is a genetically and phenotypically heterogeneous disease, and we have reviewed the clinical characteristics of 25 Korean patients thus far reported in the literature. To our knowledge, this is the first case of DBA confirmed by mutation analysis in Korea, and mutation identification using molecular method is recommended for confirmation of this genetically and phenotypically heterogeneous disease.
Anemia, Diamond-Blackfan/*diagnosis/genetics/therapy ; Asian Continental Ancestry Group/*genetics ; Bone Marrow/pathology ; Erythrocyte Transfusion ; Exons ; Humans ; Infant ; Point Mutation ; Republic of Korea ; Ribosomal Proteins/*genetics ; Sequence Analysis, DNA