Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea
Age of Onset ; Blastomeres ; Dermatan Sulfate ; Diagnosis ; Embryonic Structures ; Female ; Heparitin Sulfate ; Humans ; Korea ; Lysosomal Storage Diseases ; Lysosomes ; Male ; Mucopolysaccharidoses ; Mucopolysaccharidosis II ; Multiplex Polymerase Chain Reaction ; Parturition ; Phenotype ; Polymerase Chain Reaction ; Preimplantation Diagnosis ; Prostaglandins D

Red blood cell (RBC) alloimmunization varies across human populations and ethnic groups. We evaluated the characteristics of RBC alloimmunization and compared the risk of alloimmunization in Korean patients with myelodysplastic syndrome (MDS) and liver cirrhosis (LC), two representative diseases in which chronic transfusion is required. In total, 115 MDS patients and 202 LC patients transfused with RBCs between 2013 and 2015 were retrospectively included. Twenty patients (6.3%) were newly alloimmunized (five MDS patients, 4.3%; 15 LC patients, 7.4%). The median number of RBC units transfused in alloimmunized patients was nine (interquartile range, 4–15 units). As the number of transfused RBC units increased, the cumulative risk of alloimmunization was higher in LC than in MDS patients (P=0.001). The most common alloantibody detected in patients was anti-E (45%), followed by anti-c (17%), anti-e (10%), anti-C (7%), anti-Fyb (7%), and anti-Jka (7%). The present data indicate the need for matching of extended RBC antigens (Rh, Duffy, and Kidd systems) for chronically transfused patients with MDS and LC in Korea.
Erythrocytes ; Ethnic Groups ; Humans ; Korea ; Liver Cirrhosis ; Liver ; Myelodysplastic Syndromes ; Retrospective Studies

No abstract available.
Antibodies ; Hemodilution ; Humans ; Korea

The prevalence of RhD-negative individuals in the Korean population is approximately 0.15-0.30% and the supply of RhD-negative blood often faces potential shortage. Furthermore, 15-17% of serologically RhD-negative Korean individuals were revealed to be DEL variants and should be treated as RhD-positive when being considered as blood donors. This change is expected to result in a further shortage of RhD-negative blood supply, whereas surplus DEL variant blood stock is created. Therefore, it is now required to amend blood donation and supply policies, and transfusion strategies. In this review, a new transfusion strategy for patients with RhD-negative or variant blood in Korea is discussed, with particular interest in women of child-bearing age, patients with anti-D, and Asia type DEL (c.1227G>A) variants.
Asia ; Blood Donors ; Female ; Humans ; Korea ; Prevalence

BACKGROUND: Risk factors for bone avascular necrosis (AVN), a common late complication after kidney transplantation (KT), are not well known. METHODS: Patients that underwent living-donor KT at Asan Medical Center between January 2009 and July 2016 were included in this retrospective study to determine the incidence and risk factors for AVN after KT. RESULTS: Among 1,570 patients that underwent living-donor KT, 33 (2.1%) developed AVN during a mean follow-up of 49.8±25.0months. Additionally, AVN was diagnosed at a mean of 13.9±6.6 months after KT. The mean cumulative corticosteroid dose during the last follow-up in patients without AVN (9,108±3,400 mg) was higher than that that in patients with AVN (4,483±1,114 mg) until AVN development (P < 0.01). More patients among those with AVN (n=4, 12.1%) underwent steroid pulse treatment because of biopsy-proven rejections during the first 6 months after KT than patients without AVN (n=68, 4.4%; P=0.04). Female (hazard ratio [HR], 2.29; P=0.04) and steroid pulse treatment during the first 6 months (HR, 2.31; P=0.02) were significant AVN risk factors as revealed by the Cox proportional multivariate analysis. However, no significant differences in rejection-free graft survival rates were observed between the two groups (P=0.67). CONCLUSIONS: Steroid pulse treatment within 6 months of KT and being female were independent risk factors for AVN development.
Chungcheongnam-do ; Female ; Follow-Up Studies ; Graft Survival ; Humans ; Immunosuppression ; Incidence ; Kidney Transplantation* ; Kidney* ; Multivariate Analysis ; Necrosis* ; Osteonecrosis ; Retrospective Studies ; Risk Factors

PURPOSE: Proper management of nutrition or health care for pregnant women is known to have better perinatal outcomes for maternal and neonatal health. In this study, we investigated the effect of regular medical and nutritional counseling provided to pregnant women for improved-results for mother and neonates. METHODS: Thirty-five pregnant women participated in the study and received information on nutrition management via telephone or e-mail every four weeks until childbirth. The nutrition management program comprised proper diet, low-salt diet, low-sugar diet, breast-feeding preparation, and provision of a healthy menu according to their pregnancy trimesters. We categorized them by their degree of participation into a “low participation group” that formed the control group, and a “high participation group” as the study group. RESULTS: No significant differences were found in maternal age, and body mass index between the two groups at the time of enrollment in the study. Post-natal exclusive breast feeding rate was significantly higher in the high participation group (62%) than in the low participation group (32%) (p<0.05). In the neonatal results, gestational age at birth and neonatal birth weight were significantly higher in the high participation group than in the low participation group (p<0.05). Neonatal complication rate, neonatal admission rate to intensive care unit, rate of low birth weight, Apgar score at 1 and 5 minutes, as well as the rate of transient tachypnea were higher in the low participation group, but lacked any statistically significant difference. CONCLUSION: Collaborative nutrition management with obstetricians and nutritionists is helpful in achieving better perinatal outcomes.
Apgar Score ; Birth Weight ; Body Mass Index ; Breast Feeding ; Counseling ; Delivery of Health Care ; Diet ; Diet, Sodium-Restricted ; Electronic Mail ; Female ; Gestational Age ; Gyeonggi-do* ; Humans ; Infant Health ; Infant, Low Birth Weight ; Infant, Newborn ; Intensive Care Units ; Maternal Age ; Mothers ; Nutritionists ; Parturition ; Pregnancy Outcome ; Pregnancy Trimesters ; Pregnancy* ; Pregnant Women ; Tachypnea ; Telephone

BACKGROUND/AIMS: We aimed to clarify the association of hepatitis B surface antigen (HBsAg)/hepatitis B core antigen (HBcAg) with the disease status and treatment response in patients with chronic hepatitis B (CHB). METHODS: We investigated 171 biopsy-proven entecavir-treated CHB patients (109 hepatitis B e antigen [HBeAg]-positive, 62 HBeAg-negative). HBcAg expression was positive when ≥10% of hepatocytes stained, and classified into nuclear, mixed, and cytoplasmic patterns. HBsAg expressions were intracytoplasmic (diffuse, globular, and submembranous) and membranous. The histologic activity index (HAI) and fibrosis stage followed Ishak system. RESULTS: In HBeAg-positive patients, older age, increased HAI score, advanced fibrosis, and reduced viral load were observed when HBcAg expression shifted from nucleus to cytoplasm in HBcAg-positive patients, and HBsAg expression from non-submembranous to submembranous in HBcAg-negative patients (all, p<0.05). In HBeAg-negative patients, only intracytoplasmic HBsAg expression patterns had clinical relevance with decreased ALT levels and viremia. In HBeAg-positive patients without favorable predictors of virologic response, negative HBcAg and membranous HBsAg expression predicted greater virologic response (both, p<0.05). The probability of HBeAg seroclearance was higher in patients with increased HAI or lacking HBcAg expression (both, p<0.05). Higher serum HBsAg levels and hepatocyte HBcAg positivity were associated with reduced serum HBsAg during first and post-first year treatment, respectively (both, p<0.05). CONCLUSIONS: Hepatocyte HBcAg/HBsAg expression is a good marker for disease status and predicting treatment response.
Cytoplasm ; Fibrosis ; Hepatitis B Core Antigens* ; Hepatitis B e Antigens ; Hepatitis B Surface Antigens* ; Hepatitis B* ; Hepatitis B, Chronic* ; Hepatitis* ; Hepatitis, Chronic* ; Hepatocytes* ; Humans ; Viral Load ; Viremia

No abstract available.
Phenotype*

No abstract available.
Acute Lung Injury/*etiology ; Adult ; Blood Transfusion/*adverse effects ; Coronavirus/genetics/isolation & purification ; Coronavirus Infections/*diagnosis/virology ; Humans ; Male ; Oximetry ; Real-Time Polymerase Chain Reaction ; Republic of Korea ; Viral Proteins/genetics/metabolism

OBJECTIVE: Artificial oocyte activation (AOA) is an effective method to avoid total fertilization failure in human in vitro fertilization-embryo transfer (IVF-ET) cycles. AOA performed using a calcium ionophore can induce calcium oscillation in oocytes and initiate the fertilization process. We evaluated the usefulness of AOA with a calcium ionophore in cases of total fertilization failure in previous cycles and in cases of severe male factor infertility patients with non-motile spermatozoa after pentoxifylline (PF) treatment. METHODS: The present study describes 29 intracytoplasmic sperm injection (ICSI)-AOA cycles involving male factor infertility at Cheil General Hospital from January 2006 to June 2013. Patients were divided into two groups (control, n=480; AOA, n=29) depending on whether or not AOA using a calcium ionophore (A23187) was performed after testicular sperm extraction-ICSI (TESE-ICSI). The AOA group was further split into subgroups according to sperm motility after PF treatment: i.e., motile sperm-injected (n=12) and non-motile sperm-injected (n=17) groups (total n=29 cycles). RESULTS: The good embryo rate (52.3% vs. 66.9%), pregnancy rate (20.7% vs. 52.1%), and delivery rate (10.3% vs. 40.8%) were lower in the PF/AOA group than in the control group. When evaluating the effects of restoration of sperm motility after PF treatment on clinical outcomes there was no difference in fertilization rate (66.6% vs. 64.7% in non-motile and motile sperm, respectively), pregnancy rate (17.6% vs. 33.3%), or delivery rate (5.9% vs. 16.7%) between the two groups. CONCLUSION: We suggest that oocyte activation is a useful method to ensure fertilization in TESE-ICSI cycles regardless of restoration of sperm motility after PF treatment. AOA may be useful in selected patients who have a low fertilization rate or total fertilization failure.
Calcium ; Calcium Signaling ; Embryonic Structures ; Fertilization ; Fertilization in Vitro* ; Hospitals, General ; Humans ; Infertility ; Male ; Oocytes* ; Pentoxifylline ; Pregnancy Rate ; Sperm Injections, Intracytoplasmic* ; Sperm Motility ; Spermatozoa*