No abstract available.
Child* ; Hemagglutination* ; Humans ; Mycoplasma pneumoniae* ; Mycoplasma* ; Pneumonia* ; Pneumonia, Mycoplasma*

BACKGROUND: Oculocutaneous albinism (OCA) is a genetic disorder of the melanin pigment system in which melanin synthesis is reduced or absent in the skin, hair, and eyes. OCA is classified into two major types, and tyrosinase-related OCA can be produced by mutations of the structural gene for tyrosinase enzyme (TYR gene). OBJECTIVE: The purpose of this study was to analyze the segregation of mutant alleles of the TYR gene in tyrosinase-negative and tyrosinase-positive Korean OCA patients and families. METHODS: We amplified exon I, II, and III of the TYR gene of Korean OCA patients and their families by polymerase chain reactions (PCR), and analyzed the mutations by restriction fragment length polymorphism (RFLP) analysis in exon I and single-strand conformation polymorphism (SSCP) analyses in exon II and exon III. RESULTS: Two tyrosinase-negative cases showed mutations in exon I. Four tyrosinase-nega-tive cases and one tyrosinase-positive case showed mutations in exon II, and one tyrosinase-neg- ative case showed mutations in exon III. In summary, we found three kinds of mutation in four tyrosinase-negative OCA patients and one tyrsinase-positive OCA patient. CONCLUSIONS: RFLP and SSCP analysis can provide a basis for a rapid and sensitive screening system to detect TYR gene mutations of Korean OCA patients and their families.
Albinism, Oculocutaneous* ; Alleles ; Exons ; Hair ; Humans ; Korea* ; Mass Screening ; Melanins ; Monophenol Monooxygenase ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single-Stranded Conformational ; Skin

No abstract available.
Heart Transplantation* ; Heart*

Congenital lymphedema is a rare disorder of unknown etiology which affects the extremities, preponderantly the lower extremities, at or immediately after birth. We experienced a case of congenital lymphedema in a newborn with generalized edema on the left lower extremity. We performed lymphangioscintigraphy and MRI for diagnosis. Microlymphaticovenous anastomosis was done on 16 days after birth and the patient showed clinical improvement. We report this case with brief review of the related literature.
Diagnosis ; Edema ; Extremities ; Humans ; Infant, Newborn ; Lower Extremity ; Lymphedema* ; Magnetic Resonance Imaging ; Parturition

Heart transplantation (HTx) has become standard treatment for selected patients with end-stage heart failure. Improvements in immunosuppressant, donor procurement, surgical techniques, and post-HTx care have resulted in a substantial decrease in acute allograft rejection, which had previously significantly limited survival of HTx recipients. However, limitations to long-term allograft survival exist, including rejection, infection, coronary allograft vasculopathy, and malignancy. Careful balance of immunosuppressive therapy and vigilant surveillance for complications can further improve long-term outcomes of HTx recipients.
Allografts ; Forecasting ; Heart Failure ; Heart Transplantation ; Heart ; Humans ; Tissue Donors

Heart transplantation (HTx) has become standard treatment for selected patients with end-stage heart failure. Improvements in immunosuppressant, donor procurement, surgical techniques, and post-HTx care have resulted in a substantial decrease in acute allograft rejection, which had previously significantly limited survival of HTx recipients. However, limitations to long-term allograft survival exist, including rejection, infection, coronary allograft vasculopathy, and malignancy. Careful balance of immunosuppressive therapy and vigilant surveillance for complications can further improve long-term outcomes of HTx recipients.

Heart failure (HF) is an important cardiovascular disease because of its increasing prevalence, significant morbidity, high mortality, and rapidly expanding health care cost. The number of HF patients is increasing worldwide, and Korea is no exception. There have been marked advances in definition, diagnostic modalities, and treatment of HF over the past four decades. There is continuing effort to improve risk stratification of HF using biomarkers, imaging and genetic testing. Newly developed medications and devices for HF have been widely adopted in clinical practice. Furthermore, definitive treatment for end-stage heart failure including left ventricular assist device and heart transplantation are rapidly evolving as well. This review summarizes the current state-of-the-art management for HF and the emerging diagnostic and therapeutic modalities to improve the outcome of HF patients.
Biomarkers ; Cardiovascular Diseases ; Diagnosis ; Genetic Testing ; Health Care Costs ; Heart Failure* ; Heart Transplantation ; Heart* ; Heart-Assist Devices ; Humans ; Korea ; Mortality ; Prevalence ; Prognosis

No abstract available.
Immunoglobulin A* ; Immunoglobulins*

There is an additional information in the acknowledgments.