Gilbert's syndrome is caused by a reduction in the activity of uridine diphosphate glucuronosyltransferase (UGT) and induces chronic, non-hemolytic unconjugated hyperbilirubinemia. It has been suggested that 3-10% of the population has Gilbert's syndrome. Commonly, Gilbert's syndrome causes mild symptoms. However, a case of Gilbert's syndrome with severe neonatal hyperbilirubinemia is presented here. The patient developed jaundice three days after birth. Five days after birth, the patient's total serum bilirubin level was 34 mg/dL. The patient received intensive phototherapy and was given oral phenobarbital. Hemolytic hyperbilirubinemia was excluded on the basis of laboratory tests. Heterozygote polymorphisms of the promoter region (-3279T>G) and exon 1 (211G>A) were found in UGT1A1 gene. After discharge, the patient did not require any further treatment. This is the first case of proven Gilbert's syndrome with severe neonatal hyperbilirubinemia in Korea.
Bilirubin ; Exons ; Gilbert Disease ; Glucuronosyltransferase ; Heterozygote ; Humans ; Hyperbilirubinemia ; Hyperbilirubinemia, Neonatal ; Infant, Newborn ; Jaundice ; Korea ; Parturition ; Phenobarbital ; Phototherapy ; Promoter Regions, Genetic ; Uridine Diphosphate

Gilbert's syndrome is caused by a reduction in the activity of uridine diphosphate glucuronosyltransferase (UGT) and induces chronic, non-hemolytic unconjugated hyperbilirubinemia. It has been suggested that 3-10% of the population has Gilbert's syndrome. Commonly, Gilbert's syndrome causes mild symptoms. However, a case of Gilbert's syndrome with severe neonatal hyperbilirubinemia is presented here. The patient developed jaundice three days after birth. Five days after birth, the patient's total serum bilirubin level was 34 mg/dL. The patient received intensive phototherapy and was given oral phenobarbital. Hemolytic hyperbilirubinemia was excluded on the basis of laboratory tests. Heterozygote polymorphisms of the promoter region (-3279T>G) and exon 1 (211G>A) were found in UGT1A1 gene. After discharge, the patient did not require any further treatment. This is the first case of proven Gilbert's syndrome with severe neonatal hyperbilirubinemia in Korea.
Bilirubin ; Exons ; Gilbert Disease ; Glucuronosyltransferase ; Heterozygote ; Humans ; Hyperbilirubinemia ; Hyperbilirubinemia, Neonatal ; Infant, Newborn ; Jaundice ; Korea ; Parturition ; Phenobarbital ; Phototherapy ; Promoter Regions, Genetic ; Uridine Diphosphate

Hepatitis A virus (HAV) infection is a common cause of acute hepatitis, but is rarely responsible for neonatal hepatitis. HAV infection is usually transmitted by the fecal-oral route, but during the neonatal period can be transmitted by the intrauterine vertical route or postnatal horizontal route. HAV infection is usually self-limited, but it can be potentially life-threatening in adults. The clinical course and symptoms are mild and the infection can be asymptomatic in newborns. Recently, we experienced a case of symptomatic neonatal hepatitis A. To our knowledge, this is the first case of neonatal hepatitis with HAV infection in Korea.
Adult ; Hepatitis ; Hepatitis A ; Hepatitis A virus ; Humans ; Infant, Newborn ; Korea

OBJECTIVES: The purpose of this study was to examine mothers' eating behavior and salty taste and its relationship to their preschool children's eating behaviors. METHODS: This survey was conducted by self-report after getting permission from sixty one mothers who had preschool children. The questionnaire was focused on mothers' salty test and salt-related eating behavior of both mothers and their preschool children. RESULTS: Comparison of eating behavior score between mother and their preschoolers showed that mothers' score was lower than their preschoolers' one. Salty foods with high preference and intake frequency by mothers and preschoolers were 'salted dry fish, stock fish' and 'soup, stew, noodle soup'. In addition, there were strong positive correlations between preference and intake frequency on most of the salty food items. Intake of Ramen soup was significantly different (p < 0.001) between the two groups. Preschoolers ate less ramen soup compared to their mothers. CONCLUSIONS: Overall results showed that preschoolers' dietary behavior was better than the mothers' one. However, preschoolers' dietary behavior was significantly influenced by their mothers. Therefore, mothers should have an appropriate eating behavior in order to have a positive influence on their children's eating habits. In addition, the results suggested that proper nutrition education is needed for mothers of preschool children.
Child, Preschool* ; Eating ; Education ; Feeding Behavior* ; Humans ; Mothers ; Parents* ; Surveys and Questionnaires

Lemierre syndrome is a rare disease involving multiple organs affected by septic emboli following oropharyngeal infection. After the introduction of penicillin in the 1940s, it became a "forgotten" disease. However, due to the development of diagnostic image modalities including neck computed tomography (CT) scan, the number of published reports of Lemierre syndrome and diagnosis has been increasing since the 1990s. In this report, we describe a case of Lemierre syndrome, following oropharyngeal infection in a 16-year-old patient, who manifested with persistent fever and neck stiffness. Neck ultrasonography confirmed thrombus formation in the right internal jugular vein without definite evidence of septic emboli to other organs. After the three-week-long antibiotics therapy was completed, the thrombus in the right internal jugular vein finally disappeared.
Adolescent ; Anti-Bacterial Agents ; Diagnosis ; Fever* ; Humans ; Jugular Veins ; Lemierre Syndrome* ; Neck* ; Penicillins ; Rare Diseases ; Thrombophlebitis ; Thrombosis ; Ultrasonography

BACKGROUND: Atopic dermatitis is a chronic inflammatory disease associated with long-term use of topical and systemic medications. Several articles have described the use of balneotherapy as an adjuvant treatment for atopic dermatitis in many countries, including Korea. OBJECTIVE: The goal of this study was to investigate the therapeutic efficacy and safety of balneotherapy as an adjuvant treatment of atopic dermatitis. METHODS: Ten patients with atopic dermatitis were enrolled in this study and each patient served as their own control. Testing was conducted on the anterior cubital fossa of the arm. A priori binary randomization was completed to determine which arm would receive balneotherapy or tap water. Patients visited clinics 3 times per week for 2 weeks and had a forearm bath for 15 minutes. Assessment was performed at baseline, and after 1 and 2 weeks of treatment. RESULTS: At the last visit, the balneotherapy group showed improvements in their local eczema area, severity index score, and the degree transepidermal water loss. The physician's global assessment, patient's self-global assessment, and skin hydration was increased in both groups. CONCLUSION Our study suggests that balneotherapy is a safe adjuvant therapy that could be considered for the treatment of atopic dermatitis. However, more studies are required to demonstrate scientific basis for this treatment.

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient’s karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot–Marie–Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. Materials and Methods: Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. Results: From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%).Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. Conclusion This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.

Background: Patients with hematologic cancers have a risk of drug-related problems (DRPs) from medications associated with chemotherapy and supportive care. Although the role of oncology pharmacists has been widely documented in the literature, few studies have reported its impact on cost reduction. This study aimed to describe the activities of oncology pharmacists with respect to hematologic diseases and evaluate the associated cost avoidance. Methods: From January to July 2021, patients admitted to the department of hemato-oncology at Seoul National University, Bundang Hospital were studied. The activities of oncology pharmacists were reported by DRP type following the Pharmaceutical Care Network version 9.1 guidelines, and the acceptance rate was calculated. The avoided cost was estimated based on the cost of the pharmacy intervention, pharmacist manpower, and prescriptions associated with the intervention. Results: Pharmacists intervened in 584 prescriptions from 208 patients during the study period. The most prevalent DRP was “adverse drug event (possibly) occurring” (32.4%), followed by “effect of drug treatment not optimal” (28.6%). “Drug selection” (42.5%) and “dose selection” (30.3%) were the most common causes of DRPs. The acceptance rate of the interventions was 97.1%. The total avoidance cost was KRW 149,468,321; the net profit of the avoidance cost, excluding labor costs, was KRW 121,051,690; and the estimated cost saving was KRW 37,223,748. Conclusion Oncology pharmacists identified and resolved various types of DRPs from prescriptions for patients with hematologic disease, by reviewing the prescriptions. Their clinical service contributed to enhanced patient safety and the avoidance of associated costs.

Background: Adrenal venous sampling (AVS) is performed to distinguish the subtype of primary aldosteronism (PA). The clinical implication of contralateral suppression (CS; aldosterone/cortisolnondominantMethods: In this retrospective observational multi-center study, we analyzed PA patients who underwent both successful adrenocorticotropin hormone-stimulated AVS and unilateral adrenalectomy. Successful cannulation was defined as the selectivity index (cortisoladrenal/ cortisolperipheral) ≥3. Clinical and biochemical outcomes after unilateral adrenalectomy were evaluated based on the international Primary Aldosteronism Surgical Outcome consensus. Results: Among 263 patients analyzed, 247 had CS (93.9%). Patients with CS had lower serum potassium levels, higher plasma aldosterone concentration, higher aldosterone-to-renin ratio (ARR), and larger adenoma size than those without CS. Those with CS showed significantly higher lateralization index than those without CS (P<0.001). Although postoperative blood pressure and ARR significantly decreased in those with CS, clinical and biochemical outcomes were comparable in both groups. When the cut-off value of age was determined using receiver operating characteristic (ROC) analysis, patients aged ≥50 years old with contralateral suppression index (CSI; the ratio between aldosterone/cortisolnondominant and aldosterone/cortisolperipheral) ≤0.26 had greater odds ratio (6.43; 95% confidence interval, 1.30 to 31.69) of incident chronic kidney disease than those aged <50 years with CSI >0.26 after adjusting for other factors. Conclusion CS may not predict postoperative clinical and biochemical outcomes in subjects with unilateral aldosterone excess, but it is associated with postsurgical deterioration of renal function in subjects over 50 years with CSI ≤0.26.