A case of lupus miliaris desseminatus faciei, 23 year old male was reported. The multiple minute discrete yellowish brown superficial nodules, 2 to 3 mm in diameter, revealed apple-jelly color under diascopy without any subjective symptoms since June, 1971. The lesions affect lower eyelids, forehead, cheeks, malar region, upper lip, chin and nasolabial folds symmetrically. Histopathological findings revealed conglomerated individual tubercles with prominent central caseation necrosis. He was given 600mg of INH and 12 mg of PAS daily per os for 2 months. The eruptions were healed gradually with pitted scars.
Cheek ; Chin ; Cicatrix ; Eyelids ; Forehead ; Humans ; Lip ; Male ; Nasolabial Fold ; Necrosis ; Young Adult

A 17 year old female with Klippel-Trenaunay-Weber Syndrome is presented. Of particular interest was presence of congenital heart anomaly. The nevus flarnmeus invoIved her entire right leg and foot with hypertrophy, elongation and partial ulecration. Elongation of the right leg Iead cornpensatory vertebral scoliosis (Fig.1,2). The cutaneous temperature of affected side was higher than the other side, and. was larger on somatometry and osteometry (Table 1). On auscultation, grade III systolic blowing murmur was heard on left upper sternal border with second heart sound splitting. Electrocardiograrn revealed complete right bundle branch block (Fig. 3). Chest X-ray revealed cardiomegaly, increase 3 hilar shadaws and rnild pulmonary congestion (Fig. 4). Above mentioned signs suggests strongly secundum type of atrial septal defect. Femoral angiography didnt show arteriovenous malformation (Fig. 5). Authors experienced this rare variant of Klippel-Trenaunzy-Weber Syndrome acco- mapanying with congenital heart anamaly, and report this with review of literatures.
Adolescent ; Angiography ; Arteriovenous Malformations ; Auscultation ; Bundle-Branch Block ; Cardiomegaly ; Estrogens, Conjugated (USP) ; Female ; Foot ; Heart Septal Defects, Atrial ; Heart Sounds ; Heart* ; Humans ; Hypertrophy ; Klippel-Trenaunay-Weber Syndrome* ; Leg ; Nevus ; Scoliosis ; Thorax

Authers observed one case of typical reactive perforating collagenosis (RPC) which did not seem to have been described in the Korean literature. A 19 year old male patient complained of a skin eruption involving his face, upper and lower extremities, and trunk in June 1973. The skin eruption appeared at the age of 10 and consisted of discrete papules of which the earliest lesion was a pinhead-sized, skin-colord papule, but it became older, it increased in size and developed a small central area of umbilication containing keratinous material. As new papules continued to develop, the older lesions regressed and disappeared with residual scar. No subjective symptom was obtained except intermittent, mild itching sensation which probably due to a irritation. The Keobner's phenomenon was observed on the dorsum of hands. He has acne vulgaris on the face with many of the individual comedones showing development into RPC. He also had a chronic maxillary sinusitis which was seemed to aggravate the skin eruption. In follow up period (about 5 months), the sinusitis was cured with operation, but the skin eruption was not improved. The family history was negative. Histopathological studies revealed typical RPC, i.e., a cup-shaped epidermal depression of which center was lacked the epidermis was noted, and through it, necrobiotic connective tissue, degenerating inflammatory- cells and collagen bundles are extruded to form a plug. Diagnosis was confirmed by clinical appearance and typical histopathologic features. The patient did not responed to topical application of 0. 1% Retinoic acid solution and Vitamin A and D.
Acne Vulgaris ; Cicatrix ; Collagen ; Connective Tissue ; Depression ; Diagnosis ; Epidermis ; Follow-Up Studies ; Hand ; Humans ; Lower Extremity ; Male ; Maxillary Sinus ; Maxillary Sinusitis ; Pruritus ; Sensation ; Sinusitis ; Skin ; Tretinoin ; Vitamin A ; Young Adult

Two Cases of Juvenile XanthogranuIoma(JXG) are reported with review of literatures. JXG is a rare disease, and have not yet been reported in this country. Case I: Two months oId healthy female infant has two firm, discrete, brownish yellow waxy nodules on the left postauricular region and the left forearm. The lesion had begun as erythematous pinhead sized papules, and have been enlarged rapidly to pea siez during last three weeks. Case II: Three year old healthy male has firm, discrete, pinhead to pea sized scattered 16 papules and nodules on the trunk and right side of neck. Laboratory findmgs and X-ray studies were normal in both cases and there were no evidence of metabolie disorder or bony abnormality. Histopathologic studies show similar findings in both cases. In hematoxylin-eosin staining, epidermis shows parekeratosis and slight elongation of rete ridges with suprapapillary thinning with focal spongiosis and invasion of inflammatory cells. The entire dermis, from dermal papillae to sbcutis, is replaced by granulomatous lesion composed with histioeytes and a few giant cell reaction, in addition to histiocytic proliferation, considerable amount of eosinophils are infiltrated with some lymphocytes and plasma cells. The dermal collagen fibers are partly degenerated. In the upper most portion, some foamy histiocytes are also seen. In frozen section and Sudan III fat staining, the tissue shows rnild reactivities.
Collagen ; Dermis ; Eosinophils ; Epidermis ; Female ; Forearm ; Frozen Sections ; Giant Cells ; Histiocytes ; Humans ; Infant ; Lymphocytes ; Male ; Neck ; Peas ; Plasma Cells ; Rare Diseases ; Sudan ; Xanthogranuloma, Juvenile*

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.

PURPOSE: The purpose of this study was to analyze research in the Korean Journal of Rehabilitation Nursing and to suggest further perspective for rehabilitation nursing research. METHOD: In this study we reviewed the contents of 134 articles published in this journal from its beginning year 1998 to 2004. RESULTS: The majority of subjects were adult patients. The type of disease were Cerebrovascular Accident, Neuromuscular disease, Cancer patients, Urogenital disease such as Chronic Renal Failure, Spinal cord injury. Domain of research almost was client, type of research were survey (34.3%), quasi experimental study (20.9%), correlation study (19.4%). Nursing intervention of experimental study was exercise (39.0%), education (17.1%). Place of data collection was hospital (58.2%), position of researcher was professor (67.2%), method of data collection was questionnaire (50.7%). CONCLUSION: There has been a lack of written consent, child rehabilitation, measurement tool development, qualitative research. More studies about rehabilitation nursing are needed to extend the role and fields for professional nursing.
Adult ; Child ; Data Collection ; Education ; Humans ; Kidney Failure, Chronic ; Neuromuscular Diseases ; Nursing ; Qualitative Research ; Surveys and Questionnaires ; Rehabilitation Nursing* ; Rehabilitation* ; Spinal Cord Injuries ; Statistics as Topic ; Stroke

We have recently encounted a case of Kasabach-Merritt syndrome which were characterized by hemangioma, thrombocytopenia, and disseminated intravascular coagulation. The skin of anterior neck and tongue was involved by large mass of hemangioma. Patient was taken ventilator care from upper airway obstruction of hemangioma. He was placed on combined therapy with steroid and interferon alfa-2a for 13weeks. Blood platelet count increased to acceptable range(>20000/mm3) after 10weeks of interferon alfa-2a treatment and the hemangioma decreased in size. But, he expired from failure of airway maintenance, uncontrollable bleeding and septic shock on hospital day 93. A brief review of the literature ensues with the case report.
Airway Obstruction* ; Disseminated Intravascular Coagulation ; Hemangioma ; Hemorrhage ; Humans ; Interferons* ; Kasabach-Merritt Syndrome* ; Neck ; Platelet Count ; Shock, Septic ; Skin ; Thrombocytopenia ; Tongue ; Ventilators, Mechanical