Marden-Walder syndrome is characterized by a mask-like face, blepharophimosis, joint contractures, and psychometer retardation. We report a newborn infant with the clinical features of the syndrome. He was diagnosed with clinical findings of mask-like face, blepharophimosis, micrognathia, camptodactyly, arachnodactyly, multiple contractures, and hypotonia. The infant died of aspiration pneumonia at 5 months. A brief review of related literature is also presented.
Arachnodactyly ; Blepharophimosis ; Contracture ; Humans ; Infant ; Infant, Newborn ; Joints ; Muscle Hypotonia ; Pneumonia, Aspiration

BACKGROUND: The adequate management of mild to moderate dilatation of the ascending aorta during cardiac operations remains controversial. In this study, we present the short-term outcomes of 90 patients undergoing ascending aortic wrapping with a Dacron graft during other cardiac operations. MATERIALS AND METHODS: From March 2008 to January 2011, 90 consecutive patients underwent treatment for ascending aortic aneurysm using the external wrapping technique during the concomitant procedure. The study group consisted of 49 male and 41 female patients with a mean age of 58.7+/-13 years. The primary cardiac surgical procedures were coronary artery bypass grafting (CABG) in 3, aortic valve replacement in 2, and aortic valvuloplasty in 85 patients (isolated in 62 and combined with CABG or mitral valvuloplasty in 23). The ascending aorta diameter was measured using a computed tomography scan within 4 weeks after surgery, and was compared with the preoperative value. RESULTS: The diameters of the ascending aorta wrapped with the Dacron graft were significantly reduced within a month after surgery from 46.4+/-4.3 mm to 33.0+/-3.5 mm (p<0.05). There was no early mortality or major surgical complication. During the mean follow-up period of 15.4+/-5.2 months, there was only one late death caused by septic multiorgan failure. CONCLUSION: Dacron wrapping of the ascending aorta offers excellent results with very low mortality and morbidity, and it can be regarded as a safe and effective method for the treatment of moderately dilated ascending aorta in selected patients.
Aorta ; Aortic Aneurysm ; Aortic Valve ; Cardiac Surgical Procedures ; Coronary Artery Bypass ; Dilatation ; Female ; Follow-Up Studies ; Humans ; Male ; Polyethylene Terephthalates ; Thoracic Surgery ; Transplants

We report a case of liver abscess caused by Aspergillus and Enterococcus faecium in a patient with acute myeloid leukemia. As far as we know, this is the first case of hepatic aspergillosis in Korea. After remission induction chemotherapy, the female patient presented with abdominal pain and was found to have liver abscess. The patient was treated with antibiotics against E. faecium, which was isolated from the abscess drainage. However, the therapeutic response was unsatisfactory and a left lateral sectionectomy of the liver was conducted after 21 days of treatment. The liver tissue showed typical pathologic findings of aspergillosis and voriconazole was administered. Allogeneic hematopoietic stem cell transplantation was performed successfully after 4 months. The possibility of aspergillosis should be considered when an immunocompromised patient with hepatic abscess poorly responds to the use of broad spectrum antibiotics.
Abdominal Pain ; Abscess ; Anti-Bacterial Agents ; Aspergillosis ; Aspergillus ; Drainage ; Enterococcus ; Enterococcus faecium ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Immunocompromised Host ; Korea ; Leukemia, Myeloid, Acute ; Liver ; Liver Abscess ; Pyrimidines ; Remission Induction ; Triazoles

Posaconazole is a new oral triazole with broad-spectrum antifungal activity. Posaconazole has also shown a significant advantage of preventing invasive fungal infection compared to fluconazole or itraconazole in patients with prolonged neutropenia. Indeed, posaconazole has been commonly used for antifungal prophylaxis in patients undergoing remission induction chemotherapy for acute myelogenous leukemia or myelodysplastic syndrome. We experienced a case of fatal mucormycosis despite posaconazole prophylaxis. To our knowledge, this is the first reported case of fatal breakthrough mucormycosis in a patient receiving posaconazole prophylaxis during remission induction chemotherapy in Korea. This case demonstrated that breakthrough fungal infection can occurs in patients receiving posaconazole prophylaxis because of its limited activity against some mucorales.
Drug Therapy ; Fluconazole ; Humans ; Itraconazole ; Korea ; Leukemia, Myeloid, Acute* ; Mucorales ; Mucormycosis* ; Myelodysplastic Syndromes ; Neutropenia ; Remission Induction

Purpose: Neuroblastoma (NB) is the most common extracranial solid tumor found in children. To identify significant genetic factors for the risk of NB, several genetic studies was conducted mainly for Caucasians and Europeans. However, considering racial differences, there is a possibility that genetic predispositions that contribute to the development of NB are different, and GWAS study has not yet been conducted on Korean NB patients. Materials and Methods: To identify the genetic variations associated with the risk of pediatric NB in Korean children, we performed a genome-wide association analysis with 296 NB patients and 1000 unaffected controls (total n = 1,296) after data cleaning and filtering as well as imputation of non-genotyped SNPs using IMPUTE v2.3.2. Results: After adjusting for multiple comparisons, we found 21 statistically significant SNPs associated with the risk of NB (Pcorr < 0.05) within 12 genes (RPTN, MRPS18B, LRRC45, KANSL1L, ARHGEF40, IL15RA, L1TD1, ANO7, LAMA5, OR7G2, SALL4, and NEUROG2). Interestingly, out of these, 12 markers were nonsynonymous SNPs. The SNP rs76015112 was most significantly associated with the risk of NB (p = 8.1E-23, Pcorr = 2.3E-17) and was located in the RPTN gene. In addition, significant nonsynonymous SNPs in ADGRE1 were found in patients with MYCN amplification (rs7256147, p = 2.6E-05). In high-risk group, rs7256147 was observed as a significant SNP (p = 5.9E-06). Conclusion Our findings might facilitate improved understanding of the mechanism of pediatric NB pathogenesis. However, functional evaluation and replication of these results in other populations are still needed.

Purpose: Firefighting duties range from field roles such as suppression, rescue, and emergency medical services (EMS) to various administrative tasks. Despite these differences, they face uniform fitness standards in Korea. This study seeks to define distinct fitness needs for each duty and provide data for customized standards. Methods: One hundred seventy-six Korean male firefighters participated, categorized into suppression (n=76), rescue (n=22), administrative (n=27), and EMS (n=51) roles. All underwent maximal oxygen consumption (VO2 max) tests for aerobic capacity, with body composition measured using bioelectrical impedance and height recorded with a stadiometer. Results: The VO2 max (mL/kg/min) among Korean male firefighters varied across different job duties: suppression (39.96±5.84), rescue (44.84±4.85), administration (40.27±7.01), and EMS (40.51±6.75). Rescue had the highest VO2 max, which was significantly higher (p=0.013). The body mass index (BMI, kg/m2 ) values were as follows: suppression (25.07±2.55), rescue (24.95±1.71), EMS (24.33±3.21), and administration (25.10±2.48). There was no statistically significant difference in BMI values (p=0.464). Conclusion This study evaluated the VO2 max and BMI of South Korean male firefighters according to their job duties. It found that 54.5% did not meet the recommended VO2 max standard of 42 mL/kg/min for their activities, and 77.5% had a BMI indicating overweight or higher. However, it is important to note that not every firefighting duty requires high fitness levels. The key is ensuring firefighters possess the fitness necessary for their specific roles to maintain safety and efficiency. The study aims to provide data for creating fitness management guidelines tailored to the diverse duties of firefighters.

BACKGROUND: The expression of the SOCS genes in cytomegalovirus (CMV) viremia after hematopoietic stem cell transplantation (HSCT) remains largely unexplored. METHODS: Using quantitative RT-PCR of mononuclear cells, we conducted pairwise comparison of SOCS1 and SOCS3 expression levels among a healthy donor group (N=55), a pre-HSCT group (N=17), and the recipient subgroup (N=107), which were divided according to the occurrence of CMV viremia and acute graft-versus-host disease (aGVHD). RESULTS: Compared to that in the healthy donor group, SOCS1 expression was higher in the CMV+ subgroup, especially in the CMV+GVHD- group, but decreased in the other subgroups. When compared to the expression in the pre-HSCT group, SOCS1 expression was significantly higher in the CMV+ subgroup, especially in the CMV+GVHD+ subgroup. Meanwhile, compared to that in the healthy donor group, SOCS3 expression was significantly lower in all other groups. The CMV-GVHD- subgroup showed significantly lower SOCS3 expression compared to the CMV+ subgroup, the CMV+GVHD+ subgroup, and the CMV+GVHD- subgroup. CONCLUSION: We report differential expression of SOCS genes according to CMV viremia with acute GVHD occurrence after HSCT, suggesting that regulation of SOCS expression is associated with CMV viremia.
Cytomegalovirus* ; Graft vs Host Disease ; Hematopoietic Stem Cell Transplantation* ; Humans ; Tissue Donors ; Viremia*