Myotonic Dystrophy Type 1 Presenting as Male Infertility

Myotonic dystrophy 1 (DM1) is a multi-system disorder characterized by endocrine defects that include testicular and tubular atrophy, oligospermia and azoospermia, and increased follicle-stimulating hormone levels. We describe a rare case of DM1 presenting as infertility in a 29-year-old man

Dissection Manual for Open Rhinoseptoplasty in a Silicone Nose Model

Open rhinoseptoplasty has been widely performed in the field of otorhinolaryngology. However, from the perspective of beginners, rhinoseptoplasty is a hard-to-learn surgery that involves a relatively steep learning curve. Therefore, practical guidance is essential to enhance the skills needed for excellent surgical outcomes. Here, we provide a step-wise dissection manual using a commercialized silicone nose model designed for rhinoseptoplasty. The contents include general approaches with regard to transcolumellar inverted V incision, flap elevation, osteotomy, septoplasty, modification of the lower lateral cartilage for tip surgery, and dorsal augmentation using silicone implants. In addition, we introduce novel techniques such as dorsal augmentation using a ready-made mold with tissue glue applied to diced cartilage and polycaprolactone mesh for rhinoseptoplasty. The present study also provides photos of individual surgical procedures using a silicone nose model for actual guidance. The authors expect that this manual will help beginning rhinoseptoplasty surgeons improve their confidence

Epidemiology of Kawasaki disease in infants 3 months of age and younger

PurposeThis study investigated the epidemiology of Kawasaki disease (KD) in infants ≤3-month-old.MethodsTo study the epidemiology of KD in Korea, data for 27,851 KD patients were collected on a 3-year basis between 2000 and 2008 in a retrospective survey. From this, data for 609 KD patients ≤3-month-old were analyzed and compared with the data for KD patients >3-month-old.ResultsThe 609 KD patients ≤3-month-old (385 males and 224 females) constituted 2.2% of the KD patients. They included 25 infants <1-month-old, 198 infants ≤1- to 2-month-old, and 386 infants >2- and 3-months-old. The ratio of males to females was 1.72:1. The incidence of coronary artery (CA) dilatation (19.9% vs. 18.7%) and CA aneurysms (3.4% vs. 2.6%) detected by echocardiography did not differ significantly between patients with KD younger and older than 3-month-old.ConclusionCompared with the data for the KD patients >3-month-old, the data for the 609 patients ≤3-month-old did not show a significantly higher incidence of CA dilatation or CA aneurysms

CD82/KAI1 Maintains the Dormancy of Long-Term Hematopoietic Stem Cells through Interaction with DARC- Expressing Macrophages

Hematopoiesis is regulated by crosstalk between long-term repopulating hematopoietic stem cells (LT-HSCs) and supporting niche cells in the bone marrow (BM). Here, we examine the role of CD82/ KAI1 in niche-mediated LT-HSC maintenance. We found that CD82/ KAI1 is expressed predominantly on LT-HSCs and rarely on other hematopoietic stem-progenitor cells (HSPCs). In Cd82 +/-/+/- mice, LTHSCs were selectively lost as they exited from quiescence and differentiated. Mechanistically, CD82based TGF-b1/ Smad3 signaling leads to induction of CDK inhibitors and cell-cycle inhibition. The CD82 binding partner DARC/ CD234 is expressed on macrophages and stabilizes CD82 on LT-HSCs, promoting their quiescence. When DARC + BMmacrophages were ablated, the level of surface CD82 on LT-HSCs decreased, leading to cell-cycle entry, proliferation, and differentiation. A similar interaction appears to be relevant for human HSPCs. Thus, CD82 is a functional surface marker of LT-HSCs that maintains quiescence through interaction with DARC-expressing macrophages in the BM stem cell niche.113525Ysciescopu

The Distinct Metabolic Phenotype of Lung Squamous Cell Carcinoma Defines Selective Vulnerability to Glycolytic Inhibition

Adenocarcinoma (ADC) and squamous cell carcinoma (SqCC) are the two predominant subtypes of non-small cell lung cancer (NSCLC) and are distinct in their histological, molecular and clinical presentation. However, metabolic signatures specific to individual NSCLC subtypes remain unknown. Here, we perform an integrative analysis of human NSCLC tumour samples, patient-derived xenografts, murine model of NSCLC, NSCLC cell lines and The Cancer Genome Atlas (TCGA) and reveal a markedly elevated expression of the GLUT1 glucose transporter in lung SqCC, which augments glucose uptake and glycolytic flux. We show that a critical reliance on glycolysis renders lung SqCC vulnerable to glycolytic inhibition, while lung ADC exhibits significant glucose independence. Clinically, elevated GLUT1-mediated glycolysis in lung SqCC strongly correlates with high 18F-FDG uptake and poor prognosis. This previously undescribed metabolic heterogeneity of NSCLC subtypes implicates significant potential for the development of diagnostic, prognostic and targeted therapeutic strategies for lung SqCC, a cancer for which existing therapeutic options are clinically insufficient

A Nationwide Survey of Lymphangioleiomyomatosis in Korea: Recent Increase in Newly Diagnosed Patients

In 2007, the Korean Interstitial Lung Disease Society had collected clinical data of patients who have diagnosed as Lymphangioleiomyomatosis (LAM) since 1990 through nationwide survey, which showed that LAM patients had increased sharply after 2004. The present study was performed to show the clinical features of Korean patients with LAM, and to establish the reason for the recent increase in the diagnosis. All 63 patients were women and the mean age at diagnosis was 36 yr. The most common presenting symptom was dyspnea and 8 patients had tuberous sclerosis complex. The survival rate at 5 yr after diagnosis was 84%. Compared with patients diagnosed after 2004 (n=34), the patients diagnosed before 2004 (n=29) complained with dyspnea more (P=0.016) and had lower FEV1% predicted (P=0.003), and DLco% predicted (P=0.042). The higher proportion of patients diagnosed after 2004 showed the normal chest radiography, and they were detected by routine chest CT screening (P=0.016). This study showed that clinical features of Korean patients with LAM were not different from those reported elsewhere. It is concluded that the reason for the increase of newly diagnosed patients is the result of increase in detection of the early stage LAM by the widespread use of chest CT screening

Expression of nicotinamide N-methyltransferase in hepatocellular carcinoma is associated with poor prognosis

<p>Abstract</p> <p>Background</p> <p>Hepatocellular carcinoma (HCC) is the most common tumor in the adult liver, with high relapse and mortality rates despite diverse treatment modalities. In this study, nicotinamide N-methyltransferase (NNMT), a key enzyme in drug metabolism, was investigated as a potential prognostic factor.</p> <p>Methods</p> <p>Frozen tumors and non-cancerous surrounding tissues from 120 patients with primary HCC were studied. Expressions of NNMT and internal control genes were measured by real-time reverse-transcription PCR (RT-PCR). The relationship of NNMT mRNA level with clinicopathologic parameters and clinical outcome was evaluated.</p> <p>Results</p> <p>NNMT mRNA level is markedly reduced in HCCs compared to non-cancerous surrounding tissues (P < 0.0001), and NNMT expression in tumors was significantly correlated with tumor stage (P = 0.010). Moreover, stratification of patients based on tumor NNMT mRNA levels revealed that the patients who expressed higher NNMT mRNA levels tended to have a shorter overall survival (OS) time (P = 0.053) and a significantly shorter disease-free survival (DFS) time (P = 0.016). Both NNMT expression (P = 0.0096) and tumor stage (P = 0.0017) were found to be significant prognostic factors for DFS in a multivariate analysis.</p> <p>Conclusion</p> <p>The results of this study indicated that NNMT gene expression is associated with tumor stage and DFS time in HCC cases. Because of the broad substrate specificity of NNMT, which could alter the efficacy and adverse effects of chemotherapy, NNMT merits further investigation regarding its role as a prognostic factor with a larger cohort of HCC patients.</p