Various psychiatric symptoms, including depressive mood, cognitive dysfunction, and psychosis, have been observed in the course of Wilson disease, however both domestic and international case reports on Wilson disease presenting with typical mania before the onset of neurological or hepatic symptoms are rare. Even though the delayed diagnosis of Wilson disease can lead to irreversible impairment, including liver cirrhosis, diagnosis of Wilson disease usually takes more than two years for patients showing psychiatric symptoms as their first manifestation. Without careful observation and adequate understanding of the disease, clinicians may overlook signs and symptoms suggesting Wilson disease in patients showing typical psychiatric symptoms such as mania. In order to promote clinician's vigilance in detecting symptoms and signs of Wilson disease in patients showing symptoms of bipolar disorder, we report on a rare case of a 31-year-old male Wilson disease patient who developed symptoms of typical bipolar disorder before the onset of neurological or hepatic symptoms.
Adult ; Bipolar Disorder* ; Delayed Diagnosis ; Diagnosis ; Hepatolenticular Degeneration* ; Humans ; Liver Cirrhosis ; Male ; Psychotic Disorders

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

Residents who are currently in the process of completing graduate medical education (GME) will eventually become independently practicing professionals; therefore, the quality of GME is of enormous importance for our society. To improve the quality of GME in Korea, we, as young doctors, suggest that the government support funding for GME; make all possible efforts to ensure reasonable and sustainable working conditions for residents; implement adequate maternity plans; prohibit all kinds of unauthorized medical practice by other healthcare providers; and prevent all kinds of workplace violence toward residents. These measures to improve the quality of GME will surely benefit patient safety and the overall quality of healthcare in the future.
Delivery of Health Care* ; Education, Medical, Graduate ; Financial Management ; Health Personnel ; Humans ; Internship and Residency ; Korea* ; Patient Safety ; Quality of Health Care ; Workplace Violence

Ceftriaxone is widely used in patients for the treatment of serious gram-negative infections. Ceftriaxone can induce some potential side effects, including neurotoxicity, however, nonconvulsive status epilepticus has rarely been reported. We report a case of acute reversible neurotoxicity associated with ceftriaxone. A 65-yr-old woman with chronic kidney disease developed altered consciousness during ceftriaxone treatment for urinary tract infection. The electroencephalogram demonstrated continuous bursts of generalized, high-voltage, 1 to 2 Hz sharp wave activity. Neurologic symptoms disappeared following withdrawal of ceftriaxone. The possibility of ceftriaxone-induced neurotoxicity should be considered in patients developing neurological impairment during ceftriaxone use, and the discontinuation of the drug could lead to complete neurological improvement.
Aged ; Anti-Bacterial Agents/*adverse effects/therapeutic use ; Anticoagulants/therapeutic use ; Ceftriaxone/*adverse effects/therapeutic use ; Electroencephalography ; Female ; Humans ; Nervous System Diseases/*etiology ; Renal Dialysis ; Renal Insufficiency, Chronic/pathology ; Seizures/etiology ; Thrombosis/diagnosis/drug therapy ; Tomography, X-Ray Computed ; Urinalysis ; Urinary Tract Infections/diagnosis/drug therapy

Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune forms of congenital hyperthyroidism caused by activating mutations of the thyrotropin receptor (TSHR) gene are rare. A woman gave birth to a boy during an emergency cesarean section at 33 weeks of gestation due to fetal tachycardia. On the 24th day of life, thyroid function tests were performed due to persistent tachycardia, and hyperthyroidism was confirmed. Auto-antibodies to TSHR, thyroid peroxidase, and thyroglobulin were not found. The patient was treated with propylthiouracil and propranolol, but hyperthyroidism was not well controlled. At 3 months of age, the patient had craniosynostosis and hydrocephalus, and underwent a ventriculoperitoneal shunt operation. Direct sequencing of the TSHR gene showed a heterozygous mutation of c.1899C>A (p.Asp633Glu) in exon 10. No mutations were discovered in any of the parents in a familial genetic study. We have reported a case of sporadic nonautoimmune congenital hyperthyroidism, by a missense mutation of the TSHR gene, for the first time in South Korea.
Cesarean Section ; Craniosynostoses ; Emergencies ; Exons ; Female ; Germ-Line Mutation ; Humans ; Hydrocephalus ; Hyperthyroidism* ; Immunoglobulins, Thyroid-Stimulating ; Iodide Peroxidase ; Korea ; Male ; Mutation, Missense ; Parents ; Parturition ; Pregnancy ; Propranolol ; Propylthiouracil ; Receptors, Thyrotropin ; Tachycardia ; Thyroglobulin ; Thyroid Function Tests ; Ventriculoperitoneal Shunt

Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.
Birt-Hogg-Dube Syndrome* ; Codon, Nonsense ; Estrone* ; Humans ; Pneumothorax* ; Rare Diseases ; Skin ; Thoracic Surgery, Video-Assisted ; Thoracoscopy ; Wills

Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: p.(Arg379*) in FLCN.
Birt-Hogg-Dube Syndrome* ; Codon, Nonsense ; Estrone* ; Humans ; Pneumothorax* ; Rare Diseases ; Skin ; Thoracic Surgery, Video-Assisted ; Thoracoscopy ; Wills

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

BACKGROUND AND OBJECTIVES: Consonants are uttered in the high frequency range in speech to bring out understanding of our language. As consonants convey most of the word information, listeners with high-frequency hearing loss find it hard to understand speech. Non-linear frequency compression (NLFC) technology compresses and moves higher frequencies into a lower frequency region where better residual hearing is present. The purpose of this study was to evaluate clinical effectiveness of NLFC technology in patients with high-frequency hearing loss. SUBJECTS AND METHOD: Twelve ears representing patients with sloping, high-frequency sensorineural hearing loss were involved in this study. Pure-tone audiometry and Threshold Equalizing Noise Test were conducted initially in all subjects. The subjects were tested in the counter-balanced order, and had two months of everyday experience with NLFC on/off before testing took place. A resting period intervened the two phases. Performance was repeatedly evaluated with Sound Field Audiometry, Word Recognition Score, Reception Threshold for Sentences and Korean version of International Outcome Inventory for Hearing Aids. RESULTS: Cochlear dead region was detected on 4 kHz of both ears in only one subject. Each subject showed diverse performance and satisfaction with active NLFC condition. Typically, audibility of high-frequency pure-tones improved with NLFC-on condition. However, speech perception both in quiet and noise was not much improved when compared with NLFC-off condition. CONCLUSION: The NLFC technology could improve audibility in high-frequency, but failed to demonstrate benefits regarding speech perception. Further research is needed to validate the effectiveness of the NLFC technology especially in terms of speech intelligibility.
Audiometry ; Audiometry, Pure-Tone ; Ear ; Hearing ; Hearing Aids ; Hearing Loss, High-Frequency* ; Hearing Loss, Sensorineural ; Humans ; Noise ; Speech Intelligibility ; Speech Perception

OBJECTIVES: The present study aimed to investigate the relationships among the lifetime incidence of trauma, internalizing symptoms, and quality of life (QoL) in out-of-school youths (OSYs). METHODS: We recruited 50 OSYs in South Korea. Participants completed the following surveys: completed Lifetime Incidence of Traumatic Events for children, Youth Self Report, and The KIDSCREEN-27 QoL measure for children and adolescents. Mediation analysis was conducted to test the research hypotheses. RESULTS: The mean lifetime incidence of traumatic events among OSYs was 3.27 (standard deviation, 2.41). Internalizing symptoms significantly mediated the lifetime incidence of trauma and QoL. OSYs with fewer internalizing symptoms exhibited a better QoL in the domain of psychological well-being, although their lifetime incidence of trauma was higher. CONCLUSION: The results of current study suggest that assessment and therapeutic intervention with regard to internalizing symptoms are needed to increase the QoL of OSYs.
Adolescent* ; Anxiety ; Child ; Depression ; Humans ; Incidence* ; Korea ; Negotiating ; Quality of Life* ; Self Report ; Student Dropouts