PURPOSE: Congenital limb anomalies are manifested in various degree of severity and complexity bearing confusion for description and nomenclature of each anomaly. We retrospectively analyzed the roentgenograms of congenital limb anomalies for the purpose of further understanding of radiologic manifestations based on the embryonal defect and also to find the incidence of each anomaly. MATERIALS AND METHODS: Total number of the patients was 89 with 137 anomalies. Recently the uniform system of classification for congenital anomalies of the upper limb was adopted by International Federation of Societies for Surgery of the Hand (IFSSH), which were categorized as 7 classifications. We used the IFSSH classification with some modification as 5 classifications;failure of formation of parts, failure of differentiation of parts, duplications, overgrowth, and undergrowth. RESULTS: The patients with upper limb anomalies were 65 out of 89(73%), lower limb were 21(24%), and both upper and lower limb anomalies were 3(4%). Failure of formation was seen in 18%, failure of differentiation 39%, duplications 39%, overgrowth 8%, and undergrowth in 12%. Thirty-five patients had more than one anomaly, and 14 patients had intergroup anomalies. CONCLUSION: The upper limb anomalies were more common than lower limb. Among the anomalies, failure of differentiation and duplications were the most common types of congenital limb anomalies. Patients with failure of formation, failure of differentiation, and undergrowth had intergroup association of anomalies, but duplication and overgrowth tended to be isolated anomalies.
Classification ; Extremities* ; Hand ; Humans ; Incidence ; Lower Extremity ; Retrospective Studies ; Upper Extremity

No abstract available.
Cushing Syndrome*

Objective: Previous research on autism spectrum disorder (ASD) in Koreans has primarily focused on genetic diversity because of its high heritability. However, the emerging recognition of transgenerational epigenetic changes has recently shifted research attention towards epigenetic perspectives. Methods: This study investigated the DNA methylation patterns of the promoter regions of candidate genes such asNR3C1, ASCL1, and FOXO3 in blood samples from ASD probands and their unaffected siblings. The analysis included 54 families (ASD proband group: 54; unaffected biological sibling group: 63). The diagnostic process involved screening the probands and their siblings for ASD based on the Diagnostic and Statistical Manual of Mental Disorders 5th edition.Intelligence, social ability, and medical history were thoroughly assessed using various scales and questionnaires.Genomic DNA from blood samples was analyzed using a methylation-sensitive quantitative polymerase chain reaction to examine the DNA methylation status of candidate genes. Results: Methylation levels in candidate gene promoter regions differed significantly between the proband and sibling groups for all candidate genes. Correlation analysis between the proband and sibling groups revealed strong and significant correlations in NR3C1 and ASCL1 methylation. Additionally, in the analysis of the relationship between DNA and ASD phenotypes, FOXO3 methylation correlated with social quotient in probands, and ASCL1 methylation was associated with nonverbal communication, and daily living skills as measured by the Korean Vineland Adaptive Behavior Scale. Notably, ASCL1 methylation was significantly associated with parental age at pregnancy. Conclusion This study proposes DNA methylation of NR3C1, ASCL1, and FOXO3 in peripheral blood samples is a potential epigenetic biomarker of ASD.

Objective: Previous research on autism spectrum disorder (ASD) in Koreans has primarily focused on genetic diversity because of its high heritability. However, the emerging recognition of transgenerational epigenetic changes has recently shifted research attention towards epigenetic perspectives. Methods: This study investigated the DNA methylation patterns of the promoter regions of candidate genes such asNR3C1, ASCL1, and FOXO3 in blood samples from ASD probands and their unaffected siblings. The analysis included 54 families (ASD proband group: 54; unaffected biological sibling group: 63). The diagnostic process involved screening the probands and their siblings for ASD based on the Diagnostic and Statistical Manual of Mental Disorders 5th edition.Intelligence, social ability, and medical history were thoroughly assessed using various scales and questionnaires.Genomic DNA from blood samples was analyzed using a methylation-sensitive quantitative polymerase chain reaction to examine the DNA methylation status of candidate genes. Results: Methylation levels in candidate gene promoter regions differed significantly between the proband and sibling groups for all candidate genes. Correlation analysis between the proband and sibling groups revealed strong and significant correlations in NR3C1 and ASCL1 methylation. Additionally, in the analysis of the relationship between DNA and ASD phenotypes, FOXO3 methylation correlated with social quotient in probands, and ASCL1 methylation was associated with nonverbal communication, and daily living skills as measured by the Korean Vineland Adaptive Behavior Scale. Notably, ASCL1 methylation was significantly associated with parental age at pregnancy. Conclusion This study proposes DNA methylation of NR3C1, ASCL1, and FOXO3 in peripheral blood samples is a potential epigenetic biomarker of ASD.

Objective: Previous research on autism spectrum disorder (ASD) in Koreans has primarily focused on genetic diversity because of its high heritability. However, the emerging recognition of transgenerational epigenetic changes has recently shifted research attention towards epigenetic perspectives. Methods: This study investigated the DNA methylation patterns of the promoter regions of candidate genes such asNR3C1, ASCL1, and FOXO3 in blood samples from ASD probands and their unaffected siblings. The analysis included 54 families (ASD proband group: 54; unaffected biological sibling group: 63). The diagnostic process involved screening the probands and their siblings for ASD based on the Diagnostic and Statistical Manual of Mental Disorders 5th edition.Intelligence, social ability, and medical history were thoroughly assessed using various scales and questionnaires.Genomic DNA from blood samples was analyzed using a methylation-sensitive quantitative polymerase chain reaction to examine the DNA methylation status of candidate genes. Results: Methylation levels in candidate gene promoter regions differed significantly between the proband and sibling groups for all candidate genes. Correlation analysis between the proband and sibling groups revealed strong and significant correlations in NR3C1 and ASCL1 methylation. Additionally, in the analysis of the relationship between DNA and ASD phenotypes, FOXO3 methylation correlated with social quotient in probands, and ASCL1 methylation was associated with nonverbal communication, and daily living skills as measured by the Korean Vineland Adaptive Behavior Scale. Notably, ASCL1 methylation was significantly associated with parental age at pregnancy. Conclusion This study proposes DNA methylation of NR3C1, ASCL1, and FOXO3 in peripheral blood samples is a potential epigenetic biomarker of ASD.

Objective: Previous research on autism spectrum disorder (ASD) in Koreans has primarily focused on genetic diversity because of its high heritability. However, the emerging recognition of transgenerational epigenetic changes has recently shifted research attention towards epigenetic perspectives. Methods: This study investigated the DNA methylation patterns of the promoter regions of candidate genes such asNR3C1, ASCL1, and FOXO3 in blood samples from ASD probands and their unaffected siblings. The analysis included 54 families (ASD proband group: 54; unaffected biological sibling group: 63). The diagnostic process involved screening the probands and their siblings for ASD based on the Diagnostic and Statistical Manual of Mental Disorders 5th edition.Intelligence, social ability, and medical history were thoroughly assessed using various scales and questionnaires.Genomic DNA from blood samples was analyzed using a methylation-sensitive quantitative polymerase chain reaction to examine the DNA methylation status of candidate genes. Results: Methylation levels in candidate gene promoter regions differed significantly between the proband and sibling groups for all candidate genes. Correlation analysis between the proband and sibling groups revealed strong and significant correlations in NR3C1 and ASCL1 methylation. Additionally, in the analysis of the relationship between DNA and ASD phenotypes, FOXO3 methylation correlated with social quotient in probands, and ASCL1 methylation was associated with nonverbal communication, and daily living skills as measured by the Korean Vineland Adaptive Behavior Scale. Notably, ASCL1 methylation was significantly associated with parental age at pregnancy. Conclusion This study proposes DNA methylation of NR3C1, ASCL1, and FOXO3 in peripheral blood samples is a potential epigenetic biomarker of ASD.

The functional immaturity of PMNs is one of the major causes of overwhelming sepsis in newborns. In this study, we observed functions and surface markers of PMNs to investigate what causes the functional immaturity of PMNs in newborns. As results, the percentage of EA rosette forming PMNs (58.5 +/- 15.5%) and the chemotactic movement (0.14 +/- 0.09 mm) of cord blood PMNs were significantly lower than those of adult peripheral blood PMNs (70.8 +/- 9.9%, 0.60 +/- 0.34 mm). Cord blood PMNs showed decreased glass adherence and ADCC activity. The expression of Fc gamma RII or Fc gamma RIII was a little lower than those of adult peripheral blood PMNs, but the expression of Fc gamma RI (43.1 +/- 26.8%) was significantly higher than that of adult peripheral blood PMNs (3.2 +/- 1.8%). There was a significant difference in LFA-1 expression between EA rosette forming PMNs (92.9 +/- 9.1%) and EA rosette non-forming PMNs (25.6 +/- 22.6%). From these results, it is assumed that neonatal PMNs may consist of heterogeneous populations. And the relatively high percentage of EA rosette non-forming PMNs which express a low level of LFA-1 may be responsible for the functional immaturity of cord blood PMNs.
Antibody-Dependent Cell Cytotoxicity ; Cell Adhesion ; Chemotaxis, Leukocyte ; Fetal Blood/*cytology ; Human ; Lymphocyte Function-Associated Antigen-1/*physiology ; Neutrophils/*physiology ; Receptors, IgG/*physiology ; Rosette Formation

Serum immunoglobulin concenatrations were measured in 156 patients with various types of glomerulonephritis such as acute poststreptococcal glomerulonephritis, minimal lesion nephrotic syndrome and Henoch-Sch?lein purpura nephritis. 1) Serum IgG level was above normal mean in acute poststreptococcal glomerulonephritis, and normal range in Henoch-Scholein purpura nephritis. Serum IgG concentrations were significantly reduced in minimal lesion nephrotic syndrome. 2) Serum IgA concentrations were normal limit in minimal lesion nephrotic syndrome. In one-forth of acute poststreptococcal glomerulonephritis and one-half of Henoch-Sch?lein purpura nephritis, serum IgA concentrations were elevated. 3) Serum IgM concentrations were normal in acute poststreptococcal glomerulonephritis, minimal lesion nephrotic syndrome and Henoch-Sch?lein purpura nephritis. We concluded that serum immunoglobulin concentrations were not useful as an aid in diagnosing glomerulonephritis.
Glomerulonephritis* ; Humans ; Immunoglobulin A ; Immunoglobulin G ; Immunoglobulin M ; Immunoglobulins* ; Nephritis ; Nephrotic Syndrome ; Purpura ; Reference Values

A 4 day old male neonate with severe dehydration, uremia, and hyperbilirubinemia presented with bilateral renal vein thrombosis. Following exchange transfusion and peritoneal dialysis renal function returned to normal without nephrectomy. The importance of adequate and prompt management of renal failure to expect the spontaneous recanalization is stressed. Because of the high mortality rate associated with the nephrectomy in neonates, adequate and prompt medical management including peritoneal dialysis or exchange transfusion, if indicated, with expectation of spontaneous recovery is considered the treatment of choice in this age group.
Dehydration ; Humans ; Hyperbilirubinemia ; Infant, Newborn* ; Male ; Mortality ; Nephrectomy ; Peritoneal Dialysis ; Renal Insufficiency ; Renal Veins* ; Thrombosis* ; Uremia

PURPOSE: The purpose of this study was to analyze trends in complementary and alternative therapy in nursing research in Korea. METHOD: The researchers examined academic theses and dissertations published from 1990 to 2002, and 151 articles were used for the analysis. RESULT: Nursing research on CAT increased rapidly from 1995. Articles with quantitative research designs made up 93.9% of the total and there were more experimental studies than non-experimental studies. Patients who had surgery, mental disorders, renal failure, hypertension, arthritis, dementia & cancer were the most frequently participants in studies on CAT. The type of CAT used in nursing research were mind-body therapy (65.8%), manual healing therapy (28.7%), phamacologic & biological therapy (3.7%), bioelectromagnetics (0.9%) and herbal therapy (0.9%). In 44 articles both psychological and physiological parameters were used as dependent variables. In 34 articles only physiological parameters were used and in 13 only psychological parameters. The most frequently used physiological parameters in CAT were pain, physiological function and vital signs, while the most used psychological parameters were anxiety, depression and stress. CONCLUSION: More studies about CAT are needed to extend the role and fields for professional nursing. There is a need to conduct qualitative studies in nursing about the experiences of patients who receive CAT and nurses who use CAT.
Animals ; Anxiety ; Arthritis ; Biological Therapy ; Cats ; Dementia ; Depression ; Humans ; Hypertension ; Korea* ; Mental Disorders ; Mind-Body Therapies ; Nursing Research* ; Nursing* ; Phytotherapy ; Renal Insufficiency ; Research Design ; Vital Signs