A Case of Cutis Marmorata Telangiectatica Congenita with Onychodysplasia

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder, and its pathophysiology is still unclear and most cases occur sporadically. Cutaneous lesions are observed at birth with a marbled bluish and deep-purple appearance. The associated anomaly is manifest as body asymmetry, macrocephaly, hydrocephalus, mental retardation, syndactyly and congenital glaucoma. We report our experience of CMTC1 in a female infant with the gestational age of 34 weeks and 6 days and birth weight of 2,300 g who was born by cesarean section with abnormal skin lesions. The cutaneous lesions covered most of the lower body and they faded as she continues to grow. She also had onychodysplasia in her left 2nd phalanges. In this case, close follow up by not only pediatricians but also ophthalmologist and neurologists to treat various forms of lesions involved, though the prognosis of CMTC is generally good.

Birth statistics of high birth weight infants (macrosomia) in Korea / 소아과

PURPOSE: The authors analyzed the trend from the birth-related statistics of high birth weight infants (HBWIs) over 50 years in Korea from 1960 to 2010. METHODS: We used 2 data sources, namely, the hospital units (1960's to 1990's) and Statistics Korea (1993 to 2010). The analyses include the incidence of HBWIs, birth weight distribution, sex ratio, and the relationship of HBWI to maternal age. RESULTS: The hospital unit data indicated the incidence of HBWI as 3 to 7% in the 1960's and 1970's and 4 to 7% in the 1980's and 1990's. Data from Statistics Korea indicated the percentages of HBWIs among total live births decreased over the years: 6.7% (1993), 6.3% (1995), 5.1% (2000), 4.5% (2000), and 3.5% (2010). In HBWIs, the birth weight rages and percentage of incidence in infants' were 4.0 to 4.4 kg (90.3%), 4.5 to 4.9 kg (8.8%), 5.0 to 5.4 kg (0.8%), 5.5 to 5.9 kg (0.1%), and >6.0 kg (0.0%) in 2000 but were 92.2%, 7.2%, 0.6%, 0.0%, and 0.0% in 2009. The male to female ratio of HBWIs was 1.89 in 1993 and 1.84 in 2010. In 2010, the mother's age distribution correlated with low (4.9%), normal (91.0%), and high birth weights (3.6%): an increase in mother's age resulted in an increase in the frequency of low birth weight infants (LBWIs) and HBWIs. CONCLUSION: The incidence of HBWIs for the past 50 years has been dropping in Korea. The older the mother, the higher was the risk of a HBWI and LBWI. We hope that these findings would be utilized as basic data that will aid those managing HBWIs.

Changes of Maternal Age Distribution in Live Births and Incidence of Low Birth Weight Infants in Advanced Maternal Age Group in Korea / 대한주산의학회잡지

PURPOSE: The aim of our study is to identify the demographic changes of maternal age distribution in live births and incidence of low birth weight infants in advanced maternal age (> or =35 years of age) group at the time of birth in Korea. METHODS: Birth statistics in 1995, 2000, 2005, and 2008 were collected from Korean Statistical Information Service. Based on the data, total births in each group were 715,000, 634,000, 435,000, and 465,000, respectively. Maternal age distribution ranged from the age of 15 to 50, which were all fertile women. Infants were divided into groups according to birth weight. After maternal age distribution of each year and proportion of advanced maternal age group were examined, a retrospective analysis was conducted on incidence of low birth weight infant (LBWI) in advanced age pregnancy. RESULTS: Number of live births was constantly decreasing during the period of investigation. There was a shift in maternal age distribution; fertile women of the age of 25 to 29 accounted for 54.2% and 51.7% in 1995 and 2000 respectively, whereas those of the age 30 to 34 accounted for 40.8% and 42.7% in 2005 and 2008, respectively. Rate of delivery in elderly gravida were 4.8%, 6.9%, 10.8%, 14.5% in 1995, 2000, 2005 and 2008 respectively, showing a rapid increase. Of the live births, LBWI accounted for 3.0%, 3.8%, 4.3%, 4.9%, thus being increased by about 1.5 times. Overall, with rates of 7.8%, 10.3%, 15.2%, 19.0%, respectively, the proportion of advanced maternal age group with resultant LBWI was higher than that of elderly gravida alone. CONCLUSION: While there has been a constant decrease in number of live births in the last decade in Korea, proportion of advanced maternal age group is rapidly increasing and incidence of LBWI is also gradually increasing. Furthermore, considering that the incidence of LBWI among elderly gravida was increased by a higher degree than proportion of elderly gravida in maternal age distribution, maternal age can be one of the factors causing LBWI.

Renal and Gastrointestinal Amyloidosis in Castleman's Disease / 대한신장학회지

Castleman's disease is a rare disorder and thought to occur as a result of chronic antigenic stimulation due to an unknown infectious or inflammatory etiology. It has a heterogenous course: the symptoms persist in some cases for many years and have a progressive fatal course in others. Renal dysfunction in the form of nephrotic syndrome is quite a rare occurrence. Secondary amyloidosis due to Castleman's disease has also been reported in a few case reports. A 46-year-old female who had asymptomatic abdominal lymphadenopathy was diagnosed with Castleman's disease-plasma cell type in our hospital in 2006. Three years after diagnosis, she developed chronic diarrhea, weight loss, anemia and nephrotic range proteinuria. The etiology of symptom was found to be secondary amyloidosis based on renal and gastrointestinal biopsies. She was discharged with steroid therapy. Unfortunately, she had a progressive fatal course. One month after the treatment, she developed thrombocytopenia and died due to cerebral hemorrhage.

Effects of Spironolactone on the Urinary Excretion of TGF-beta1 in IgA Nephropathy / 대한신장학회지

PURPOSE: Transforming growth factor-beta1 (TGF-beta1) has an important role in the pathogenesis of renal damage; it enhances extracellular matrix production. Urinary TGF-beta1 excretion has been shown to be significantly increased in patients with IgA nephropathy. The aim of the present study was to evaluate the effect of spironolactone on urinary TGF-beta1 levels in patients with IgA nephropathy. METHODS: TGF-beta1 was measured by enzyme-linked immunosorbent assay in random urine specimens from 35 patients with IgA nephropathy. The patients were assigned to a spironolactone group, prednisolone group or losartan group. They were treated over an 8-week period. Urine samples were tested at the beginning and the end of the treatment period. RESULTS: The patients with IgA nephropathy (n=35) had a higher urinary excretion of TGF-beta1 than normal controls (n=13). Urinary TGF-beta1 excretion was positively correlated with proteinuria and pathological grading but not with serum creatinine. After 8 weeks of treatment, losartan (n=13) and prednisolone (n=11) therapy induced a significant reduction in both urinary protein and TGF-beta1 excretion. After treatment with spironolactone (n=11), urinary protein and TGF-beta1 excretion were decreased. However, the decrease was not statistically significant. There was a significant correlation between the urinary TGF-beta1 excretion and the serum aldosterone (r=0.84; p<0.01); however, treatment with spironolactone abolished this correlation. CONCLUSION: This study provides evidence that endogenous aldosterone influences urinary TGF-beta1 excretion in patients with IgA nephropathy.

A Pure Case of Gastric Carcinoid Tumor Presented with Intestinal Pseudoobstruction / 대한소화기내시경학회지

Clinical significance and prevalence of gastric carcinoid tumor are considerably rising. This is reflective of both their increased identification, with the widespread availability of upper gastrointestinal endoscopy, as well as the development of immunohistochemical study. The improvements in survival rates of gastric carcinoid tumor indicate an ability to develop optimal therapeutic strategies and regimens. Usually, the recommended treatment is surgical or endoscopic excision of the tumor. We experienced a case of intestinal pseudoobstruction combined with gastric carcinoid tumors in a 45 year-old man. He was successfully treated with endoscopic polypectomy.