Familial hemophagocytic lymphohistiocytosis (FHL) is a rare disease characterized by fever, hepatosplenomegaly, cytopenia and non-malignant lymphohistiocytic infiltration with hemophagocytosis in reticulendothelial organs. We experienced three cases of FHL in identical male twins and their younger brother who presented with fever and severe hepatosplenomegaly. Cytopenia, elevated serum transaminase and low serum albumin levels, hypertriglyceridemia were common laboratory findings of them. One of them showed markedly decreased phytohemagglutinin induced lymphocyte proliferation and reversed CD4/CD8 ratio (0.52) in flowcytometric lymphocyte subset analysis. Aspirate of bone marrow revealed typical features consistent with FHL in two of them. In spite of recent therapeutic approaches, none of them survived.
Bone Marrow ; Fever ; Humans ; Hypertriglyceridemia ; Lymphocyte Subsets ; Lymphocytes ; Lymphohistiocytosis, Hemophagocytic* ; Male ; Rare Diseases ; Serum Albumin ; Siblings

OBJECTIVES: Early diagnosis of intrauterine growth retardation is important to ensure optimal monitoring and delivery with the introduction of real-time and Doppler ultrasound systems, a noninvasive method of measuring human fetal blood flow has become available. The aim of this study is to compare blood flow velocity waveforms at the fetal descending aorta and umbilical artery in normal and in patients with pregnancy induced hypertension. METHODS: Using a combination of linear array real-time and pulsed Doppler ultrasound, blood flow velocity measurements were carried out at the fetal descending aorta and umbilical artery in 35 normal pregnancies and 18 cases of pregnancy induced hypertensive patients. RESULTS: The mean systolic/diastolic ratio of umbilical artery and aorta was significantly higher in PIH patients than in normal pregnancies(3.8 +/- 0.81 versus 2.97 +/- 0.52, p<0.05) and to predict perinatal morbidity, umbilical velocimetry is more sensitive than that of descending thoracic aorta. CONCLUSION: This study suggests that umbilical artery velocimetry could be used as a marker to predict adverse perinatal outcome.
Aorta ; Aorta, Thoracic* ; Blood Flow Velocity ; Early Diagnosis ; Female ; Fetal Blood ; Fetal Growth Retardation ; Humans ; Hypertension, Pregnancy-Induced ; Pregnancy ; Rheology* ; Ultrasonography ; Umbilical Arteries

To identify significant prognostic factors in patients undergoing simple hysterectomy in the presence of invasive cervical cancer, the records of 45 patients who had taken such a procedure between 1993 and 1997 were reviewed. Overall relapse-free survival and 5-year survival rates were 91.1 and 92.1%, respectively. Factors found to be significantly related to survival were the retrospectively determined stage(p=0.0000), the presence of residual disease(p=0.0001), and cell type(p=0.0000). By multivariate analysis, factor emerging as significantly detrimental to survival was the cell type. The presence of residual disease was a marginally significant factor(p=0.067). The expectations for survival of patients with residual tumor mass and/or with adenocarcinoma after simple hysterectomy appear to be markedly worse than those with others, so radical reoperation should be considered in those patients.
Adenocarcinoma ; Humans ; Hysterectomy* ; Multivariate Analysis ; Neoplasm, Residual ; Reoperation ; Retrospective Studies ; Survival Rate ; Uterine Cervical Neoplasms*

The fluoroquinolones are an important group of antibiotics widely used in the treatment of various infectious diseases in adults, as a result of an excellent spectrum of activity, good tissue penetration and convenient ways of administration. In recent decades, there has been extensive development, clinical investigation, licensure and use of fluoroquinolone antibiotics. However, the use of fluoroquinolones in children has been limited because of their potential to induce arthropathy in juvenile animals. Despite class label warnings against use in children, prescriptions for quinolone antibiotics to treat infections in children have become increasingly prevalent. The main use of fluoroquinolones in pediatrics should be, understandably, in serious life-threatening infections for which other antibiotics therapies are not effective or available. While most of the published studies failed to detect an increased rate of articular adverse effects in children treated with fluoroquinolones, an increase in the use of these compounds, particularly in community-acquired lower respiratory infections, could accelerate the emergence of multidrug-resistant (including fluoroquinolone) pneumococcal strains. This review will discus the main issues related to the use of fluoroquinolones in children, the major problems of resistance developing among these compounds, with special emphasis on the potential side effects and skilled use of these alternative potent drugs in pediatric infection.
Adult ; Animals ; Anti-Bacterial Agents ; Child ; Communicable Diseases ; Fluoroquinolones ; Humans ; Licensure ; Pediatrics ; Prescriptions ; Respiratory Tract Infections

Upper respiratory tract infection is one of the most common illnesses affecting children. On average, children experience around six to eight upper respiratory tract infections (URTIs) each year. Although these infections usually are mild and self limiting, they occasionally lead to complications that can be life threatening. Most URTIs can be placed within four main categories of infection: nasopharyngitis, pharyngitis, sinusitis and otitis media. Within each category of illness, there is a range of related conditions that may have similar or overlapping clinical presentations. A sound judgment is required to determine the most affected part of the respiratory mucosa. The clinical features, diagnosis and treatment of URTIs in children will be reviewed here.
Child ; Humans ; Judgment ; Nasopharyngitis ; Otitis Media ; Pharyngitis ; Respiratory Mucosa ; Respiratory Tract Infections ; Sinusitis

Hypokalemic periodic paralysis (HOPP) is a rare disease characterized by reversible attacks of muscle weakness accompanied by episodic hypokalemia. Recent molecular work has revealed that the majority of familial HOPP is due to mutations in a skeletal muscle voltage-dependent calcium-channel: the dihydropyridine receptor. We report a 13-yr old boy with HOPP from a family in which 6 members are affected in three generations. Genetic examination identified a nucleotide 3705 C to G mutation in exon 30 of the calcium channel gene, CACNA1S. This mutation predicts a codon change from arginine to glycine at the amino acid position #1239 (R1239G). Among the three known mutations of the CACNA1S gene, the R1239G mutation was rarely reported. This boy and the other family members who did not respond to acetazolamide, showed a marked improvement of the paralytic symptoms after spironolactone treatment.
Acetazolamide/pharmacology ; Adolescent ; Arginine/chemistry ; Calcium Channels/chemistry/*genetics ; Codon ; Exons ; Family Health ; Female ; Glycine/chemistry ; Humans ; Hypokalemia/metabolism ; Hypokalemic Periodic Paralysis/*diagnosis/*genetics ; Korea ; Male ; Muscle, Skeletal/metabolism ; Mutation ; Pedigree ; Protein Structure, Tertiary ; Sequence Analysis, DNA ; Spironolactone/pharmacology

PURPOSE: Recently, the list of Epsterin-Barr Virus (EBV)-associated diseases has been growing. It is now known that there are two types (type 1 & 2) of EBV, but it has yet to be fully investigated as to whether type B EBV differs in any way from type A virus in terms of geographical distribution or disease association. We performed this study to find out the prevalence of the two types of EBV in EBV seropositive healthy children and adults by using one step Polymerase chain reaction(PCR). METHODS: Fifty-four viral capsid antigen (VCA) IgG positive healthy children (5 to 15 yrs of age) and 60 healthy adults (20 to 50 yrs of age) were involved in this study. DNA extracted from saliva samples of healthy study children and adults were subjected to amplification using the modified one step general PCR, which was developed by M. Kunimoto et al for detection of EBV types. And B95-82 cells (type 1) and Jijoye cells (type 2) were used as positive controls, and K-562 cells was used as a negative control. RESULTS: EBV was detected in mouth washing saliva of 8 (14.8%) of 54 healthy children. Five EBV detected cases contained type 1 and the remaining three cases contained type 2. EBV was detected in mouth washing saliva of 21 (35%) of 60 healthy adults. Twenty EBV detected cases contained type 1 and the remaining one was type 2. In total, EBV was detected in the saliva samples of 29 cases (25.4%), and 25 (86.2%) contained type 1. CONCLUSION: The results of our study indicate that type 1 is highly dominant in Korea, and EBV excretion is more frequent in EBV positive healthy adults compared to EBV positive healthy children in Korea.
Adult* ; Capsid ; Child* ; DNA ; Herpesvirus 4, Human* ; Humans ; Immunoglobulin G ; Korea ; Mouth ; Polymerase Chain Reaction ; Prevalence ; Saliva

OBJECTIVE: Although the use of cytology in screening has reduced morbidity and mortality from invasive cervical cancer, there has been limitation because of the low sensitivity and high false negative rate in the detection of preclinical or clinical disease of the cervix. This study was performed to explore the usefulness of Hybrid Capture System HPV DNA test as a diagnostic method of the cervical cancer. METHODS: Cervical cytology and Hybrid Capture System 1 (HCS1) HPV DNA test were performed in 1,023 women who visited Gynecologic Oncology Clinic in Guro Hospital, Korea University Medical Center. HPV DNA were retested by HCS1, HCS2 and Polymerase Chain Reaction(PCR), in randomly selected 200 women to compare these DNA tests. RESULTS: While the sensitivity and specificity of cervical cytology in detection of cervical lesion were 71.2% and 89.5%, those of HCS1 HPV DNA test were 63.0% and 86.9% respectively. There was significant difference in detection of cervical precancerous lesions between HCS1 and HCS2 (P<0.05), but not between HCS2 and PCR (P=0.14). And the sensitivity and specificity were improved with combining cytology and HCS1 HPV DNA test(82.2%, 86.9%~). CONCLUSION: HCS HPV DNA test may be considered as a useful adjunctive test with cervical cytology in cervical cancer screening.
Academic Medical Centers ; Cervix Uteri ; DNA ; Female ; Human Papillomavirus DNA Tests* ; Humans ; Korea ; Mass Screening* ; Mortality ; Polymerase Chain Reaction ; Sensitivity and Specificity ; Uterine Cervical Neoplasms*

PURPOSE: We aimed to investigate the clinical and phylogenetic characteristics of Escherichia coli Urinary Tract Infections (E. coli UTI). METHODS: We enrolled patients with culture-proven E. coli UTI, who were admitted at the study hospital from September 2008 to August 2009. We investigated clinical data of patients with E. coli UTI and characteristics of isolated E. coli strains. The phylogenetic groups were classified using triplex polymerase chain reaction (PCR), and the distribution of nine virulent genes was determined by multiplex PCR. RESULTS: A total of 47 patients have participated in this study. Thirty (63.8%) were under 6 months; eight (17.0%) were between 6-12 months; and nine (19.1%) were over 12 months. We compared two age groups between under 6-month and over 6-month. In the age group under 6-month, higher proportion of male (P=0.002) and group B2 strains (P=0.020) were observed. In contrast, higher proportion of female and group non-B2 strains were observed in age group over 6-month. Frequencies of papC, papGII, papGIII, sfa/foc, hlyC, cnf1, fyuA, iroN and iucC were estimated as 68.1%, 57.4%, 42.6%, 46.8%, 46.8%, 31.9%, 87.2%, 48.9% and 63.8%, respectively. In the comparison of phylogenetic groups, group B2 showed higher distribution of virulent genes, while group D included more strains resistant to trimethoprim/sulfamethoxazole (TMP/SMZ) than other groups. CONCLUSION: We showed the age group-specific difference in the distribution of sex ratios and phylogenetic groups; more male and group B2 strains in age group under 6-month, while more female and group non-B2 in age group over 6-month. However, further evaluation including larger number of patients will be necessary to confirm above thesis in future molecular epidemiological studies.
Epidemiologic Studies ; Escherichia ; Escherichia coli ; Female ; Humans ; Infant ; Iron ; Male ; Multiplex Polymerase Chain Reaction ; Sex Ratio ; Urinary Tract ; Urinary Tract Infections

Pseudohypoparathyroidism(PHP) is a genetic disorder characterized by target cell resistance to the effect of parathyroid hormone(PTH). The disorder is classified into type I a, I b, I c and II depending on the phenotype and biochemical findings. In type I a, urinary cyclic AMP and urinary phosphate excretion are not increased after PTH stimulation because of deficient G unit activity in target cells. Deficiency of the G unit is a generalized cellular defect and accounts for the association of other endocrine disorders with type I a PHP. Type I b PHP shows resistance to PTH but not to other hormones and normal phenotypic appearance. In type I c PHP affected children have defect in catalytic unit of adenylate cyclase and in addition to resistance to PTH, resistance to the metabolic effects of TSH, gonadotropins, and glucagon may be detected. Typical appearance of Albright's hereditary osteodystrophy is common in PHP type Ia and Ic. In type II PHP, urinary cyclic AMP response is generated but this does not lead to phosphaturia. We experienced two patients with PHP. One is a 11-year-old girl diagnosed type I a PHP and the other is a 11-year-old boy suspected type I b PHP. They visited emergency room because of tetanic movement. Both patients had no previous history of tetany and showed low serum calcium level, high phosphorus level and high PTH level. The girl had typical features of Albright's hereditary osteodystrophy such as round face, short neck, obese feature, brachydactyly and mental retardation but didn't have basal ganglia calcification on brain CT. The boy showed normal appearance and no mental retardation.
Adenylyl Cyclases ; Basal Ganglia ; Brachydactyly ; Brain ; Calcium ; Child ; Cyclic AMP ; Emergency Service, Hospital ; Female ; Glucagon ; Gonadotropins ; Humans ; Hypophosphatemia, Familial ; Intellectual Disability ; Male ; Neck ; Phenotype ; Phosphorus ; Pseudohypoparathyroidism* ; Tetany