• Clinical and Experimental Pediatrics
• /
• v.56 no.8
• /
• pp.355-358
• /
• 2013

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A, which encodes a histone demethylase that interacts with MLL2. Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing, we identified a frameshift heterozygous mutation for MLL2 : (c.5256_5257delGA;p.Lys1753Alafs$^*34$). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.

• Journal of the Korean Institute of Oriental Medical Informatics
• /
• v.15 no.2
• /
• pp.101-113
• /
• 2009

Objectives: Nowadays, the number of patients having the Functional Gastrointestinal Disturbance has been on the rise and this tendency is clear in the female group. This study is aimed to investigate their cause of disease, dietary lifestyle, digestion functions, general symptoms and any disadvantages in daily lives etc. Also, it would suggest any effective results from oriental medical treatments. Methods: The total number of 20 female patients, who have been participated in this study, have been treated at Oriental Internal Medicine, Dong-eui Hospital. We have performed the survey with 50 questionnaires. Results: Most patients were having dyspepsia and had been treated more than once before the survey. The major cause of their disease includes irregular eating habits(p<0.05) and stressful mental conditions. The patients had suffered much disadvantages in daily lives and different symptoms. Specially, pain in the below of stomach pit and early satiation were common.(p<0.05) However, the Discomfort index of patients has been decreased from 9.22 point to 2.85 point after oriental medical treatment. It means this treatment has meaningful effectiveness to the Functional Gastrointestinal Disturbance patients. Conclusion: We have investigated the features of female patients with Functional Gastrointestinal Disturbance and conclude that the Oriental Medical Treatment is effective to them.

• Journal of Periodontal and Implant Science
• /
• v.36 no.4
• /
• pp.829-837
• /
• 2006

Halitosis, defined as an unpleasant oral odor, is a commonly experienced condition with a variety of etiological factors and may cause a significant social or psychological handicap to those suffering from it, In most cases, halitosis originates within the oral cavity itself and patients with periodontal disease often suffer from oral malodor, The most common cause of this disease is related to microbiota which reside on the tongue and in the periodontal pocket, This study was undertaken to examine the effect of full mouth disinfection including tongue scraping on oral malodor in a group of patients with chronic periodontitis, The relationship between halitosis and oral health status was also investigated, The volatile sulfur compounds (VSC) scores were significantly correlated with Plaque Index, Bleeding Index, pocket depth, and tongue coating score, The organoleptic ratings were significantly associated with Plaque Index, Bleeding Index. and tongue coating score, The VSC scores and organoleptic ratings correlated strongly with each other. Full mouth disinfection resulted in a significant reduction in the VSC scores. organoleptic ratings, and self-perception of malodor up to 12 weeks, This study indicates that in patients with chronic periodontitis. a full mouth disinfection including tongue scraping has a significant effect in the treatment of oral malodor.

• Pediatric Infection and Vaccine
• /
• v.24 no.3
• /
• pp.183-187
• /
• 2017

Group A streptococcus is a common cause of upper respiratory infection in children; however, it is a rare cause of pseudoaneurysm in pediatrics with only limited reports of cases associated with cardiac surgery and underlying disease. We report a case of infectious pseudoaneurysm of the right internal iliac artery caused by group A streptococcus in a previously healthy 5-year-old boy who presented with scarlet fever and group A streptococcal bacteremia. He was admitted to the hospital with fever, rash on the whole body, and sore throat, accompanied by severe leg pain. He was treated with surgical removal and antibiotics. Because a pseudoaneurysm may develop in children without vascular-related underlying diseases, we should consider the possibility of this important clinical diagnosis in patients with scarlet fever.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.9
• /
• pp.5123-5125
• /
• 2013

Background: Breast cancer is one the most common cause of cancer-related deaths among women worldwide. The aims of this study were to investigate the impact of dietary factors and health status indicators on breast cancer (BC) incidence. Materials and Methods: Risk factor data (RFD) of 89,404 individuals (15-64 years old) were gathered by questionnaire and laboratory examinations through a cross sectional study from the Non-Communicable Disease Surveillance Centre (NCDSC) of Iran. BC incidences of all provinces through 2001-2006 segregated by age and gender were obtained from the Cancer Registry Ministry of Health (CRMH). Results: a significant positive relationship was seen between diabetes mellitus, fish comsupmption, percent of academic education and non-consumption of fruit, and breast cancer in women. However, non fish consumption, percent age illiteracy and taking fruit showed a significant negative relationship with the incidence of breast cancer. In addition, multiple linear regression analysis showed associations among percentage with academic education, fruit consumption and diabetes. Conclusions: We conclude that dietary factors such as fish and furit consumption, dairy products, health status indicators, academic education, and some diseases like diabetes mellitus can affect the BC incidence, although the results of ecologic studies like this must naturally be interpreted with caution.

• Asian Pacific Journal of Cancer Prevention
• /
• v.15 no.19
• /
• pp.8483-8488
• /
• 2014

Background: Breast cancer is the most common cancer and the second most common cause of cancer-induced mortalities in Iranian women, following gastric carcinoma. The survival of these patients depends on several factors, which are very important to identify in order to understand the natural history of the disease. Materials and Methods: In this retrospective study, 313 consecutive women with pathologically-proven diagnosis of breast cancer who had been treated during a seven-year period (January 2006 until March 2014) at Towhid hospital, Sanandaj city, Kurdistan province of Iran, were recruited. The Kaplan-Meier method was used for data analysis, and finally those factors that showed significant association on univariate analysis were entered in a Cox regression model. Results: the mean age of patients was $46.10{\pm}10.81$ years. Based on Kaplan-Meier method median of survival time was 81 months and 5 year survival rate was $75%{\pm}0.43$. Tumor metastasis (HR=9.06, p=0.0001), relapse (HR=3.20, p=0.001), clinical stage of cancer (HR=2.30, p=0.03) and place of metastasis (p=0.0001) had significant associations with the survival rate variation. Patients with tumor metastasis had the lowest five-year survival rate (37%)and among them patients who had brain metastasis were in the worst condition (5 year survival rate= $11%{\pm}0.10$). Conclusions: Our findings support the observation that those women with higher stages of breast malignancies (especially with metastatic cancer) have less chance of surviving the disease. Furthermore, screening programs and early detection of breast cancer may help to increase the survival of those women who are at risk of breast cancer.

• Asian Pacific Journal of Cancer Prevention
• /
• v.17 no.2
• /
• pp.557-562
• /
• 2016

Background: Lung cancer is one of the most common cancers in the world and a major cause of death from cancer. One of the important indicators to compare the prevalence and incidence of the disease is a change in the trend. The aim of this study was to investigate the changes in the incidence of lung cancer in Iran. Materials and Methods: This study was conducted based on existing data obtained from a national registry of cancer cases and the Disease Management Center of Ministry of Health in Iran. All cases registered in the country were included during 2003-2008. Incidence rates were reported based on the direct method and standard population of World Health Organization. The study also examined the morphology of common lung cancers. Trends in incidence underwent joinpoint regression analysis. Results: Based on the results of this study, 14,403 cases of lung cancer have been recorded of which 10,582 cases were in men and 3,821 in women. Highest incidence rates were observed in the 80-84 age group. Considerable variation across provinces was evident. In females squamous cell carcinoma (SCC) demonstrated a reduction from 24% to 16% of lesions over the period of study, while adenocarcinoma rose from 21% to 29%. In males a similar reduction in SCC was apparent (42% to 29%, again with increase in AC (13 % to 18%). Conclusions: The results show that the increase in the incidence of lung cancer the trend is that more men than women and in men and may be caused by changes in smoking pattern. The incidence of lung cancer in the North West and West provinces was higher than in other regions.

• Childhood Kidney Diseases
• /
• v.22 no.2
• /
• pp.52-57
• /
• 2018

Purpose: Rhabdomyolysis is a metabolic disorder in which the content of damaged muscle cells is released into plasma. Its manifestations include asymptomatic, myalgia, gross hematuria, and complications of acute kidney injury. Because of limited data on rhabdomyolysis in children, we performed this study to determine clinical characteristics of rhabdomyolysis in children. Methods: We retrospectively reviewed the records of patients with rhabdomyolysis who were treated at the Pusan National University Children's hospital from January 2011 to July 2016. The diagnostic criteria were serum myoglobin level of ${\geq}80ng/mL$, exclusive of acute myocardial injury, cardiac arrest, and brain damage. Results: Forty-five patients were enrolled; mean age, $116{\pm}68$ months. Of these, 35 were boys and 10 were girls. Twenty-six patients experienced myalgia and 12 patients showed gross hematuria. Among these, seven patients initially had both myalgia and gross hematuria. The most common causes of rhabdomyolysis were infection, physical exertion, prolonged seizures, metabolic abnormalities, and drug addiction. Acute kidney injury (AKI) was the most common complication, followed by disseminated intravascular coagulation. Thirty-seven patients improved with sufficient fluid supply but two patients underwent hemodialysis due to deterioration of kidney function. Gross hematuria, positive occult blood test, and positive urine protein were more common in patients with AKI than in those without AKI. Conclusions: In children, infection was the most common cause of rhabdomyolysis. Most patients recovered by sufficient fluid therapy. However, in severe cases, especially in patients with underlying kidney disease, hemodialysis may be necessary in the present study.

• Clinics in Shoulder and Elbow
• /
• v.25 no.4
• /
• pp.257-264
• /
• 2022

Background: Chronic subscapularis tendon tear (SBT) is a degenerative disease and a common pathologic cause of shoulder pain. Several potential risk factors for chronic SBT have been reported. Although metabolic abnormalities are common risk factors for degenerative disease, their potential etiological roles in chronic SBT remains unclear. The purpose of this study was to investigate potential risk factors for chronic SBT, with particular attention to metabolic factors. Methods: This study evaluated single shoulders of 939 rural residents. Each subject undertook a questionnaire, physical examinations, blood tests, and simple radiographs and magnetic resonance imaging (MRI) evaluations of bilateral shoulders. Subscapularis tendon integrity was determined by MRI findings based on the thickness of the involved tendons. The association strengths of demographic, physical, social, and radiologic factors, comorbidities, severity of rotator cuff tear (RCT), and serologic parameters for SBT were evaluated using logistic regression analyses. The significance of those analyses was set at p<0.05. Results: The prevalence of SBT was 32.2% (302/939). The prevalence of partial- and full-thickness tears was 23.5% (221/939) and 8.6% (81/939), respectively. The prevalence of isolated SBT was 20.2% (190/939), SBT combined with supraspinatus or infraspinatus tendon tear was 11.9% (112/939). In multivariable logistic regression analysis, dominant side involvement (p<0.001), manual labor (p=0.002), diabetes (p<0.001), metabolic syndrome (p<0.001), retraction degree of Patte tendon (p<0.001), posterosuperior RCT (p=0.010), and biceps tendon injury (p<0.001) were significantly associated with SBT. Conclusions: Metabolic syndrome is a potential risk factor for SBT, as are these factors: overuse activity, diabetes, posterosuperior RCT, increased retraction of posterosuperior rotator cuff tendon, and biceps tendon injury.

• Asian Pacific Journal of Cancer Prevention
• /
• v.17 no.5
• /
• pp.2485-2490
• /
• 2016

The liver is one of the most common sites of cancer in the world, hepatocellular carcinoma (HCC) predominating. HCC is the sixth most common cancer and the third leading cause of cancer related death overall. Hepatitis C is a major risk factor and HCV is a rapid spreading virus which has become a problem globally, including in Pakistan. Interferon alpha therapy is used against HCV disease to regulate cell reproduction and to boost the immune system. In minute amounts interferon alpha is produced naturally by the immune system in HCV patients in response to hepatitis C virus and binds to receptors in the target cells and starts transcription of 20-30 genes due to which it develops an antiviral influence. Interferon is also administered artificially to overcome HCV disease and remove the biological effect of the virus from the infected site. The use of interferon or Peg-IFN plus Ribavirin treatment is also associated with adverse effects on body. For the current study, a convenient sample of 156 HCV positive patients of both males and females were taken. To collect blood CP and ALT, a reduction of level data and other important information were collected from the patients at regular intervals. Findings were 11.4 % in the red blood cells (RBC), 9.64 % in the total leukocyte count (WBC), 8.4 % in the hemoglobin levels (HB), 30.3 % in the platelet (Plt) count in both sexes. There was significant reduction in ALT levels due to Pegylated interferon plus ribavirin therapy. Hence strict haemotological monitoring of blood CP and ALT levels is necessary at regular intervals to reduce severe side effects which may lead to morbidity and mortality.