Purpose: Li-Fraumeni syndrome (LFS) is a hereditary disorder caused by germline mutation in TP53. Owing to the rarity of LFS, data on its clinical features are limited. This study aimed to evaluate the clinical characteristics and prognosis of Korean patients with LFS. Materials and Methods: Patients who underwent genetic counseling and confirmed with germline TP53 mutation in the National Cancer Center in Korea between 2011 and 2022 were retrospectively reviewed. Data on family history with pedigree, types of mutation, clinical features, and prognosis were collected. Results: Fourteen patients with LFS were included in this study. The median age at diagnosis of the first tumor was 32 years. Missense and nonsense mutations were observed in 13 and one patients, respectively. The repeated mutations were p.Arg273His, p.Ala138Val, and pPro190Leu. The sister with breast cancer harbored the same mutation of p.Ala138Val. Seven patients had multiple primary cancers. Breast cancer was most frequently observed, and other types of tumor included sarcoma, thyroid cancer, pancreatic cancer, brain tumor, adrenocortical carcinoma, ovarian cancer, endometrial cancer, colon cancer, vaginal cancer, skin cancer, and leukemia. The median follow-up period was 51.5 months. Two and four patients showed local recurrence and distant metastasis, respectively. Two patients died of leukemia and pancreatic cancer 3 and 23 months after diagnosis, respectively. Conclusion This study provides information on different characteristics of patients with LFS, including types of mutation, types of cancer, and prognostic outcomes. For more appropriate management of these patients, proper genetic screening and multidisciplinary discussion are required.

PURPOSE: The aim of our study was to establish a safe and convenient diagnostic method for acute gastrointestinal (GI) graft-versus-host disease (GVHD) in children by determining the sensitivity and negative predictive values of upper and lower endoscopic biopsies for children suspected of GI GVHD. METHODS: Patients suspected of GI GVHD who received endoscopic evaluation within 100 days after stem cell transplantation and endoscopies between January 2012 and March 2014 in Seoul National University Children's Hospital were included in our study. RESULTS: Fifteen patients with a total of 20 endoscopic procedures were included in our study. Sensitivity at the esophagus, stomach, and duodenum were 22.2%, 30.0%, and 80.0%, respectively. Negative predictive values at the esophagus, stomach, and duodenum were 22.2%, 30.0%, and 60.0%, respectively. Overall sensitivity and negative predictive values of upper endoscopic biopsy for GVHD were 77.8% and 50.0%, respectively. Overall sensitivity and negative predictive values of lower endoscopic biopsy for GVHD were 88.9% and 66.7%, respectively. CONCLUSION: We recommend flexible sigmoidoscopy as a safe and accurate diagnostic tool for GVHD, similar to other studies reported previously. However, if there is no evidence of GVHD on sigmoidoscopy with high index of suspicion of GI bleeding, full colonoscopy and upper endoscopy should be considered.
Biopsy ; Child ; Colonoscopy ; Duodenum ; Endoscopy* ; Esophagus ; Graft vs Host Disease* ; Hemorrhage ; Humans ; Seoul ; Sigmoidoscopy* ; Stem Cell Transplantation ; Stomach

PURPOSE: The aim of the present study was to investigate the clinical features and outcome of eosinophilic gastroenteritis (EGE) in children. METHODS: Our study enrolled 24 children who were diagnosed with EGE from 1993 to 2014 at the Department of Pediatrics, Seoul National University Children's Hospital. The patients' clinical manifestations, treatments, and outcomes were reviewed from the medical records. RESULTS: The mean age at diagnosis was 5.3 years. Most patients had gastrointestinal symptoms including diarrhea (54.2%) and abdominal pain (45.8%). Peripheral eosinophilia was present in 91.7% of the patients. Thirteen patients (54.2%) showed anemia, and 15 patients (62.5%) had hypoalbuminemia. EGE was classified as mucosal, subserosal, or muscular in 75.0%, 20.8%, and 4.2% of cases, respectively. Three patients showed gastroduodenal ulcers upon endoscopic analysis. A history of allergy was reported in 13 patients, including atopic dermatitis, allergic rhinitis, and asthma. Five patients (20.8%) improved with food restrictions. Among the 19 patients treated with steroids, 11 (57.9%) discontinued steroid treatment without subsequent relapse, 4 (21.1%) relapsed after ceasing steroid treatment, and 4 (21.1%) showed no response to steroids. Two patients who were resistant to steroids underwent therapeutic surgery. The presence of gastroduodenal ulcers was significantly associated with relapse and steroid resistance. CONCLUSION: A high suspicion of EGE is warranted when children have nonspecific gastrointestinal symptoms and peripheral eosinophilia. Most patients improved with food restrictions or steroid treatment, although one-third of patients showed a relapse or steroid resistance.
Abdominal Pain ; Anemia ; Asthma ; Child* ; Dermatitis, Atopic ; Diagnosis ; Diarrhea ; Eosinophilia ; Eosinophils* ; Gastroenteritis* ; Humans ; Hypersensitivity ; Hypoalbuminemia ; Medical Records ; Pediatrics ; Peptic Ulcer ; Recurrence ; Rhinitis ; Seoul ; Steroids ; Ulcer

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported in Korea thus far. Recently, we found an infant with neonatal cholestasis. He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis. The serum cholesterol was decreased and serum 7-dehydrocholesterol was markedly elevated. Genetic analysis of the DHCR7 gene identified a novel missense mutation (Pro227Ser) as well as a known mutation (Gly303Arg) previously identified in a Japanese patient with SLOS. Although rare in Korea, SLOS should be considered in the differential diagnosis of neonatal cholestasis, especially in patients with multiple congenital anomalies and low serum cholesterol levels.
Amino Acid Substitution ; Base Sequence ; Cholestasis/*diagnosis ; Ductus Arteriosus, Patent/diagnosis ; Electroencephalography ; Humans ; Infant, Newborn ; Liver/pathology/ultrasonography ; Male ; *Mutation, Missense ; Oxidoreductases Acting on CH-CH Group Donors/*genetics ; Phenotype ; Smith-Lemli-Opitz Syndrome/diagnosis/*genetics

Background: DNA prevalence and type distribution of human papillomavirus (HPV) varies geographically. We investigated HPV prevalence and type distribution in Korean women using the MyHPV DNA chip testing. Methods: A total of 2,368 women from five regions of the country underwent Pap smear examination and MyHPV chip testing. Results: Overall HPV positivity was 15.8% and 78.4% in women with normal and abnormal cytology, respectively. High-risk HPV infection was strongly correlated with cytological atypia. In women with abnormal cytology, the five most common HPV types were 16, 58, 18, 52, and 56/53, and HPV16 was significantly the most common type in most geographical regions. After HPV16, HPV58, and 52 were the next most frequently detected types. Women with normal cytology, in contrast, showed heterogeneity in HPV type distribution. High-grade intraepithelial lesions infected with HPV16, 18, 31 or 45 are more likely to progress to carcinoma. Conclusions: The HPV chip test can provide useful data regarding HPV positivity and type. The most common HPV type in Korean women with abnormal cytology is HPV16, with HPV58 and 52 being frequently present. Our data may have important implications for vaccination programs and the development of cervical screening.
Cervix Uteri ; DNA ; Female ; Genotype ; Humans ; Mass Screening ; Oligonucleotide Array Sequence Analysis ; Population Characteristics ; Prevalence ; Republic of Korea ; Vaccination ; Vaginal Smears

We report here on a case of a 34-year-old man with unruptured aneurysm of the left sinus of Valsalva, and he presented with acute coronary syndrome due to the putative dynamic compression of both the left main coronary artery and the left circumflex coronary artery. The cardiac multislice computed tomography scanning and coronary angiogram revealed the compression of the two coronary arteries by the aneurysm of the left sinus of Valsalva. Aneurysmectomy was performed for surgical repair. After the surgery, the patient stayed asymptomatic during the 6-months of follow-up.
Acute Coronary Syndrome* ; Adult ; Aneurysm* ; Coronary Vessels ; Follow-Up Studies ; Humans ; Multidetector Computed Tomography ; Sinus of Valsalva*

PURPOSE: Irritable bowel syndrome (IBS) is frequently yet little understood disease. Review was performed to promote understanding on the characteristics, pathophysiology, and risk factors of IBS. CONTENT: IBS is characterized by abdom in women and people with higher educational and social background, but there are some controversies. IBS is diagnosed by the Rome II or Manning criteria after excluding organic gastrointestinal diseases. The pathophysioloy is explained by abnormal control mechanism of central and enteric nervous system. Mucosal immunity, secretions, and neurotransmitter are also associated with the hypersensitivity and motility change of bowel function. Stress is known as a major triggering factor and contributed to symptoms. Other risk factors are genetic elements, childhood experiences, inflammation, anxiety, depression, diet, and sleep disorders.
Anxiety ; Depression ; Diet ; Enteric Nervous System ; Female ; Gastrointestinal Diseases ; Humans ; Hypersensitivity ; Immunity, Mucosal ; Inflammation ; Irritable Bowel Syndrome* ; Neurotransmitter Agents ; Risk Factors* ; Sleep Wake Disorders

BACKGROUND: A weak D type resulted from a quantitative reduction of the RhD antigen, whereas a partial D type resulted from a qualitatively altered RhD protein. Based on different serological properties from a weak D type, a partial D type was suspected in cases with anti-D in their serum or if nonreactive to some reagents. Most Red Cross Blood Centers pay attention to donors in determining RhD typing with a monoclonal anti-D reagent. This study examined the reactivity patterns of 4 different monoclonal anti-D reagents in RhD typing and a weak D test in 14 cases with partial D. MATERIALS AND METHODS: We collected a total of 201, 847 samples from blood donors and screened out 649 samples as Rh-negative in RhD typing with monoclonal anti-D (Bioscot) and bromelin treatment applied to an automatic analyzer between October 2002 and March 2003. Further, we performed RhD typing and weak D test using the tube method with 4 commercially available monoclonal anti-D reagents. In 14 cases with different reactivity patterns, we performed a confirming test for partial D using a `ID-partial RhD-typing' (Diamed, Switzerland) set consisting of 6 monoclonal antibodies. RESULTS: Partial D(DFR) was observed in 92.9% (13/14) and a partial D(indeterminate) was observed in 7.1% (1/14). The red blood cells from 14 cases with partial D were not agglutinated with 4 various commercially available anti-D reagents. However, in subsequently performed weak-D tests, different reactivity to their anti-D reagents were shown, namely irresponsiveness (Dade Behring, 14/14, 100%), trace-to-1+ responsiveness (Ortho-clinical diagnostics, 13/14, 92.9%), trace-to-3+ responsiveness (Bioscot, 14/14, 100%), and 1+-to-3+ responsiveness (GreenCross, Korea, 14/14, 100%). CONCLUSIONS: Considering that the most partial D discovered in the Southwestern area of Korea was partial D(DFR), it is recommended that RhD typing and/or weak D tests in blood donors should be done using more than two anti-D reagents from different clones.
Antibodies, Monoclonal ; Blood Donors ; Bromelains ; Clone Cells ; Erythrocytes ; Humans ; Indicators and Reagents* ; Korea ; Red Cross ; Tissue Donors

Many patients with chronic renal failure (CRF) requiring hemodialysis present with hypertriglyceridemia (HTG). But the exact cause of HTG in CRF is still unknown. Genetic variation of the apo AI-CIII-AIV gene cluster was reported to be associated with primary HTG, atherosclerosis and coronary artery disease. This study was designed to evaluate the association between the restriction fragment length polymorphism (RFLP) of the apo AI-CIII-AIV gene cluster and HTG in patients with CRF undergoing hemodialysis. Genetic variations of the apo AI-CIII-AIV gene cluster were analysed in peripheral leukocyte samples from 59 patients with CRF undergoing hemodialysis: 17 patients with HTG (CRF-HTG) and 42 patients without HTG (CRF-NTG). The RFLP was achieved through the digestion of PCR products by two restriction enzymes, SstI and MspI. The frequency of SstI minor allele (S2) in CRF-HTG was 0.44, which was significantly higher than that in CRF-NTG (0.17). Frequencies of MspI minor allele (M2) in CRF-HTG and CRF-NTG were not significantly different (0.5 vs 0.32) (p=0.07). Frequencies of S2-M2 genotype were 0.65 in CRF-HTG, and 0.27 in CRF-NTG (p>0.005). These data indicate that genetic variation of the apo AI-CIII-AIV gene cluster may serve as one of the causes of HTG in CRF.
Apolipoprotein A-I/genetics* ; Apolipoproteins A/genetics* ; Apolipoproteins C/genetics* ; Apolipoproteins C/blood ; Cholesterol/blood ; Female ; Human ; Hypertriglyceridemia/genetics* ; Hypertriglyceridemia/complications ; Kidney Failure, Chronic/genetics* ; Kidney Failure, Chronic/complications ; Lipoproteins, HDL Cholesterol/blood ; Male ; Middle Age ; Multigene Family* ; Renal Dialysis ; Triglycerides/blood ; Variation (Genetics)*

Many patients with chronic renal failure (CRF) requiring hemodialysis present with hypertriglyceridemia (HTG). But the exact cause of HTG in CRF is still unknown. Genetic variation of the apo AI-CIII-AIV gene cluster was reported to be associated with primary HTG, atherosclerosis and coronary artery disease. This study was designed to evaluate the association between the restriction fragment length polymorphism (RFLP) of the apo AI-CIII-AIV gene cluster and HTG in patients with CRF undergoing hemodialysis. Genetic variations of the apo AI-CIII-AIV gene cluster were analysed in peripheral leukocyte samples from 59 patients with CRF undergoing hemodialysis: 17 patients with HTG (CRF-HTG) and 42 patients without HTG (CRF-NTG). The RFLP was achieved through the digestion of PCR products by two restriction enzymes, SstI and MspI. The frequency of SstI minor allele (S2) in CRF-HTG was 0.44, which was significantly higher than that in CRF-NTG (0.17). Frequencies of MspI minor allele (M2) in CRF-HTG and CRF-NTG were not significantly different (0.5 vs 0.32) (p=0.07). Frequencies of S2-M2 genotype were 0.65 in CRF-HTG, and 0.27 in CRF-NTG (p>0.005). These data indicate that genetic variation of the apo AI-CIII-AIV gene cluster may serve as one of the causes of HTG in CRF.
Apolipoprotein A-I/genetics* ; Apolipoproteins A/genetics* ; Apolipoproteins C/genetics* ; Apolipoproteins C/blood ; Cholesterol/blood ; Female ; Human ; Hypertriglyceridemia/genetics* ; Hypertriglyceridemia/complications ; Kidney Failure, Chronic/genetics* ; Kidney Failure, Chronic/complications ; Lipoproteins, HDL Cholesterol/blood ; Male ; Middle Age ; Multigene Family* ; Renal Dialysis ; Triglycerides/blood ; Variation (Genetics)*