Aortic stenosis is the most frequent type of valvular heart disease in adult. Approximately 2-7% of the population over the age of 65 suffer from aortic valve stenosis. Due to the increasing average life expectancy in Korea, degenerative aortic stenosis is increasing and becoming a troublesome health problem in older population. Because older patients with severe degenerative aortic stenosis have many other medical conditions so they are not suitable candidate for surgery. Recently, transcatheter aortic-valve implantation (TAVI) has been suggested as a less invasive treatment for patients with high perioperative risk. We report a successful TAVI case in severe aortic stenosis patient with high perioperative risk.
Adult ; Aortic Valve Stenosis ; Heart Valve Diseases ; Humans ; Korea ; Life Expectancy

No abstract available.
Lymphoma* ; Primary Myelofibrosis*

BACKGROUND/OBJECTIVES: Given the increasing proportion of the Korean population that is aged 65 years and older, the present study analyzed the relationship between diet quality and sarcopenia in elderly persons by using data from the 2008–2011 Korea National Health and Nutrition Examination Survey (KNHANES). SUBJECTS/METHODS: Data for 3,373 persons aged 65 years and over (men: 1,455, 43.1%) were selected from the 2008–2011 KNHANES. Sarcopenia assessments are based on a formula that divides a subject's appendicular skeletal muscle mass (ASM) by their weight (wt) and multiplies that result by 100 ([ASM/wt] × 100). Sarcopenia is present if the subject's result was less than one standard deviation (SD) below the sex-specific mean for a young reference group. For evaluation of diet quality, data obtained via the 24-hour recall method were used to calculate the Diet Quality Index for Koreans (DQI-K). A general linear model was applied in order to analyze general information and nutritional intake according to sarcopenia status. For analysis of the relationship between diet quality and sarcopenia, a binominal logistic regression analysis was undertaken. RESULTS: The sarcopenia prevalence rate among the study subjects aged 65 years and over was 37.6%. The DQI-K of those without sarcopenia was 3.33 ± 0.04 points, while that of those with sarcopenia was 3.45 ± 0.04 points (P < 0.05). The relationship between diet quality and sarcopenia revealed that subjects aged 75 and older had a poor diet quality, and their odds ratio (OR) of sarcopenia presence was significantly higher (OR: 1.807, 95% confidence interval: 1.003–3.254, P < 0.05). CONCLUSIONS This study revealed that poor diet quality was related to sarcopenia presence in Koreans aged 75 and older. In order to improve the diet quality of the elderly (aged 75 and older), it is necessary to develop dietary improvement guidelines.

Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental delay, microcephaly, and dysmorphic features, including a long face and small nose. Chromosome and array comparative genomic hybridization analyses revealed 46,XY,dup(7)(q36.1-q36.3) and del(9)(p24.3). The sizes of the duplication and deletion were 9.9 Mb and 1.9 Mb, respectively. The duplication of chromosome 7 contained 68 known genes, of which 3 are related with entries in the Developmental Disorders Genotype-to-Phenotype (DDG2P) database. The deletion of chromosome 9 contained 6 known genes, of which 2 are in the DDG2P database. We investigated the genotype and phenotype in this patient, and reviewed the relevant literatures for possible clinical presentation in these variations.
Child ; Chromosome Disorders ; Chromosomes, Human, Pair 7 ; Chromosomes, Human, Pair 9 ; Comparative Genomic Hybridization ; Developmental Disabilities ; Genotype ; Humans ; Male ; Microcephaly ; Nose ; Phenotype

No abstract available.
Humans ; Phenotype*

We present a case of community-acquired pneumonia (CAP) that developed in a previously healthy young woman. She was diagnosed with Mycoplasma pneumoniae pneumonia, but did not respond to macrolide treatment. The pathogens of CAP was examined using chest radiographs, computed tomography, and various laboratory tests including Mycoplasma IgG and IgM antibodies, blood and sputum cultures, and PCR for M. pneumoniae, Legionella pneumophila, and Chlamydophila pneumoniae. In this study, differential diagnosis of the pathogens and analysis of the mechanisms underlying their resistance to macrolide treatment were performed, and the results were discussed. After changing the antimicrobial to quinolone, the patients' clinical symptoms and radiographic findings improved, and she was discharged after 8 days.
Antibodies ; Chlamydial Pneumonia ; Chlamydophila pneumoniae ; Diagnosis, Differential ; Female ; Humans ; Immunoglobulin G ; Immunoglobulin M ; Legionella pneumophila ; Mycoplasma ; Mycoplasma pneumoniae ; Pneumonia ; Pneumonia, Mycoplasma ; Polymerase Chain Reaction ; Sputum ; Thorax

No abstract available.
BRCA1 Protein/*genetics ; BRCA2 Protein/*genetics ; Base Sequence ; DNA/chemistry ; Databases, Genetic ; Female ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA

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

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical findings, often including developmental delay. In this case, the condition was detected by chromosomal microarray analysis after initial manifestation of a feeding problem and developmental delay. Minor dysmorphic features with abnormal neurological examination led to further evaluation. The father’s chromosome complement was 46, XY, t(4;10)(q35;p12.2). Parental balanced translocation can go unrecognized, because affected individuals are often phenotypically healthy until they have fertility issues such as recurrent miscarriages or children with severe congenital disorders. Genetic diagnoses help to establish a clear family genetic background that permits the development of clear treatment strategies. Prenatal counseling can also help to understand the possible risks associated with pregnancy or future child planning.

BACKGROUND: We evaluated a sensitive and quantitative method utilizing fragment analysis of the fms-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD), simultaneously measuring mutant allele burden and length, and verified the analytical performance. METHODS: The number and allelic burden of FLT3-ITD mutations was determined by fragment analysis. Serial mixtures of mutant and wild-type plasmid DNA were used to calculate the limit of detection of fragment analysis, conventional PCR, and Sanger sequencing. Specificity was evaluated using DNA samples derived from 50 normal donors. Results of fragment analysis were compared to those of conventional PCR, using 481 AML specimens. RESULTS: Defined mixtures were consistently and accurately identified by fragment analysis at a 5% relative concentration of mutant to wild-type, and at 10% and 20% ratios by conventional PCR and direct sequencing, respectively. No false positivity was identified. Among 481 AML specimens, 40.1% (193/481) had FLT3-ITD mutations. The mutant allele burden (1.7-94.1%; median, 28.2%) and repeated length of the mutation (14-153 bp; median, 49 bp) were variable. The concordance rate between fragment analysis and conventional PCR was 97.7% (470/481). Fragment analysis was more sensitive than conventional PCR and detected 11 additional cases: seven had mutations below 10%, three cases represented conventional PCR failure, and one case showed false negativity because of short ITD length (14 bp). CONCLUSIONS: The new fragment analysis method proved to be sensitive and reliable for the detection and monitoring of FLT3-ITD in patients with AML. This could be used to simultaneously assess ITD mutant allele burden and length.
Alleles ; DNA ; Humans ; Leukemia, Myeloid, Acute ; Limit of Detection ; Methods ; Plasmids ; Polymerase Chain Reaction* ; Sensitivity and Specificity ; Tissue Donors ; Vascular Endothelial Growth Factor Receptor-1