Kleefstra syndrome combined with vesicoureteral reflux and rectourethral fistula: a case report and literature review

Kleefstra syndrome is a rare genetic disease characterized by mental retardation, hypotonia, and a characteristic facial appearance. Furthermore, in some cases, Kleefstra syndrome is associated with various anorectal and genitourinary complications, including imperforated anus, vesicoureteral reflux, hydronephrosis, and chronic kidney disease. Herein, we present a case of Kleefstra syndrome with recurrent urinary tract infections associated with vesicoureteral reflux and rectourethral fistula, which was treated by a multidisciplinary approach.

A novel method to determine hepatic segments using Sonazoid, an ultrasound contrast agent

The conventional radiologic method for liver segmentation is based on the position of the hepatic and portal veins. However, during surgery, liver segments are resected based on the distribution of hepatic portal blood flow. This discrepancy can lead to a number of problems, such as miscommunication among clinicians, missing the location of the segment with the hepatic mass, and the risk of extended hepatic resection. We suggest a novel method to determine hepatic segments based on portal blood flow, as in the surgical approach, but by using high and low mechanical indexes in contrast-enhanced ultrasonography with Sonazoid. This approach is helpful for preoperatively determining hepatic segments and reducing the risk of missing the location of a hepatic tumor or extended hepatic resection.

Relationship between occupational sunlight exposure and the incidence of renal cancer

BACKGROUND: The risk factors for renal cancer include smoking, obesity, hypertension, and exposure to trichloroethylene. Recent studies have shown that low sunlight exposure increases the risk of developing a range of cancers, including renal cancer. Given that most of the daytime is spent at work, a lack of occupational sunlight exposure can be a risk factor for renal cancer. Therefore, this study examined the relationship between occupational sunlight exposure and the incidence of renal cancer. METHODS: This was a university hospital-based case-control study on renal cancer. Of the 706 newly diagnosed patients with renal cell carcinoma (RCC), 633 cases were selected; 73 who had no occupational history were excluded. In addition, 633 controls were selected from the general population after 1:1 matching with respect to sex, age (within 5 years), and residential area (constituency-level). Information on sunlight exposure by the occupational group was referred to data from France. To estimate the association between occupational sunlight exposure and the RCC risk, the odds ratios (ORs) were calculated using conditional logistic regression analysis. RESULTS: Sunlight exposure was divided into quartiles and the risk of RCC was analyzed. The adjusted OR of RCC (OR: 0.664, 95% confidence interval: 0.449–0.983) was significantly lower for the Q4 group than Q1 group but the Q2 and Q3 groups did not show significant results. The risk of RCC tended to decrease with increasing exposure to sunlight (p for trend < 0.028). CONCLUSIONS: Higher occupational sunlight exposure reduces the risk of RCC.

Pre-immigration Screening for Tuberculosis in South Korea: A Comparison of Smear- and Culture-Based Protocols / 결핵

BACKGROUND: Tuberculosis (TB) is the most important disease screened for upon patient history review during preimmigration medical examinations as performed in South Korea in prospective immigrants to certain Western countries. In 2007, the U.S. Centers for Disease Control and Prevention (CDC) changed the TB screening protocol from a smear-based test to the complete Culture and Directly Observed Therapy Tuberculosis Technical Instructions (CDOT TB TI) for reducing the incidence of TB in foreign-born immigrants. METHODS: This study evaluated the effect of the revised (as compared with the old) protocol in South Korea. RESULTS: Of the 40,558 visa applicants, 365 exhibited chest radiographic results suggestive of active or inactive TB, and 351 underwent sputum tests (acid-fast bacilli smear and Mycobacterium tuberculosis culture). To this end, using the CDOT TB TI, 36 subjects (88.8 per 105 of the population) were found to have TB, compared with only seven using the older U.S. CDC technical instruction (TI) (p<0.001). In addition, there were six drug-resistant cases which were identified (16.7 per 105 of the population), two of whom had multidrug-resistance (5.6 per 105 of the population). CONCLUSION: The culture-based 2007 TI identified a great deal of TB cases current to the individuals tested, as compared to older U.S. CDC TI.

Pre-immigration Screening for Tuberculosis in South Korea: A Comparison of Smear- and Culture-Based Protocols / 결핵및호흡기질환

BACKGROUND@#Tuberculosis (TB) is the most important disease screened for upon patient history review during preimmigration medical examinations as performed in South Korea in prospective immigrants to certain Western countries. In 2007, the U.S. Centers for Disease Control and Prevention (CDC) changed the TB screening protocol from a smear-based test to the complete Culture and Directly Observed Therapy Tuberculosis Technical Instructions (CDOT TB TI) for reducing the incidence of TB in foreign-born immigrants.@*METHODS@#This study evaluated the effect of the revised (as compared with the old) protocol in South Korea.@*RESULTS@#Of the 40,558 visa applicants, 365 exhibited chest radiographic results suggestive of active or inactive TB, and 351 underwent sputum tests (acid-fast bacilli smear and Mycobacterium tuberculosis culture). To this end, using the CDOT TB TI, 36 subjects (88.8 per 105 of the population) were found to have TB, compared with only seven using the older U.S. CDC technical instruction (TI) (p<0.001). In addition, there were six drug-resistant cases which were identified (16.7 per 105 of the population), two of whom had multidrug-resistance (5.6 per 105 of the population).@*CONCLUSION@#The culture-based 2007 TI identified a great deal of TB cases current to the individuals tested, as compared to older U.S. CDC TI.

Fragment Analysis for Detection of the FLT3-Internal Tandem Duplication: Comparison with Conventional PCR and Sanger Sequencing

BACKGROUND: We evaluated a sensitive and quantitative method utilizing fragment analysis of the fms-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD), simultaneously measuring mutant allele burden and length, and verified the analytical performance. METHODS: The number and allelic burden of FLT3-ITD mutations was determined by fragment analysis. Serial mixtures of mutant and wild-type plasmid DNA were used to calculate the limit of detection of fragment analysis, conventional PCR, and Sanger sequencing. Specificity was evaluated using DNA samples derived from 50 normal donors. Results of fragment analysis were compared to those of conventional PCR, using 481 AML specimens. RESULTS: Defined mixtures were consistently and accurately identified by fragment analysis at a 5% relative concentration of mutant to wild-type, and at 10% and 20% ratios by conventional PCR and direct sequencing, respectively. No false positivity was identified. Among 481 AML specimens, 40.1% (193/481) had FLT3-ITD mutations. The mutant allele burden (1.7-94.1%; median, 28.2%) and repeated length of the mutation (14-153 bp; median, 49 bp) were variable. The concordance rate between fragment analysis and conventional PCR was 97.7% (470/481). Fragment analysis was more sensitive than conventional PCR and detected 11 additional cases: seven had mutations below 10%, three cases represented conventional PCR failure, and one case showed false negativity because of short ITD length (14 bp). CONCLUSIONS: The new fragment analysis method proved to be sensitive and reliable for the detection and monitoring of FLT3-ITD in patients with AML. This could be used to simultaneously assess ITD mutant allele burden and length.

A case of fitness to work in a worker with COPD using the exercise stress test

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a chronic respiratory disease characterized by persistent airflow limitation. Therefore, both work ability and workday length may be affected in individuals with this disease. We studied a worker with suspected COPD and assessed fitness to work using post-bronchodilator spirometry, symptom assessment scales, and the exercise stress test. CASE REPORT: The patient was a 58-year-old man due to work as a field supervisor in the ship construction sector. He had a 40 pack-year smoking history and experienced occasional dyspnea when climbing stairs. He visited this hospital to receive cardiopulmonary function tests and to determine his ability to work. Post-bronchodilator spirometry revealed severe irreversible airway obstruction corresponding to a modified Medical Research Council grade of 2 on the dyspnea scale. His COPD Assessment Test score was 12, placing him in patient group D (high risk, more symptoms) based on the Global Initiative for Chronic Obstructive Lung Disease classification system. His maximum oxygen uptake (VO2max) was determined to be 19.16 ml/kg/min, as measured by the exercise stress test, and his acceptable workload for 8 h of physical work was calculated to be 6.51 ml/kg/min. His work tasks required an oxygen demand of 6.89 ml/kg/min, which exceeded the acceptable workload calculated. Accordingly, he was advised to adjust the work tasks that were deemed inappropriate for his exercise capacity. CONCLUSION: As COPD incidence is expected to rise, early COPD diagnosis and determination of fitness to work is becoming increasingly important. Performing the exercise stress test, to evaluate the functional capacity of workers with COPD, is considered an acceptable solution.

Relationship between housing characteristics, lifestyle factors and phthalates exposure: the first Korean National Environmental Health Survey (2009-2011)

No abstract available.

A Case of Obstructive Sleep Apnea and Assessments of Fitness for Work

BACKGROUND: Obstructive sleep apnea is a common sleep disorder that can cause excessive daytime sleepiness and impairment of cognition. These symptoms may lead to the occurrence of occupational accidents in workers with obstructive sleep apnea. CASE PRESENTATION: A 36-year-old man who worked as a dimensional control surveyor caused a vehicle accident while he was driving at the work site. Although he experienced loss of consciousness at the time of the accident, he had no other symptoms. His brain computed tomography and laboratory test did not show any specific findings. Medical tests were conducted to evaluate his fitness for work. Decreased sleep latency was observed on the electroencephalography image, which is suggestive of a sleep disorder. He frequently experienced daytime sleepiness and his Epworth sleepiness score was 13. The polysomnography showed a markedly increased apnea-hypopnea index of 84.3, which led to a diagnosis of severe obstructive sleep apnea. The patient was advised to return to work only when his obstructive sleep apnea improved through proper treatment. CONCLUSION: Proper screening for obstructive sleep apnea among workers is important for preventing workplace accidents caused by this disorder, but screening guidelines have not yet been established in Korea. An effort toward preparing practical guidelines for obstructive sleep apnea is needed.

Prevalence of the Metabolic Syndrome among Korean Workers by Occupational Group: Fifth Korean National Health and Nutrition Examination Survey (KNHANES) 2010

OBJECTIVES: The prevalence of the metabolic syndrome has increased rapidly in South Korea over the past 10 years. However, the occurrence of the metabolic syndrome in workers grouped according to the specific type of work is not well understood in Korea. In this study, we assessed the differences in the prevalence of the metabolic syndrome by occupational group and evaluated the risk of the metabolic syndrome among occupational groups. METHODS: From the Fifth Korean National Health and Nutrition Examination Survey (2010), 3,303 employed participants were included in this study. The unadjusted and age-adjusted prevalences of the metabolic syndrome were estimated and multiple logistic regression analysis was conducted using the presence of the metabolic syndrome as a dependent variable, and adjusting for age, education level, household income, drinking behavior, smoking status, physical activity, work hours, and work scheduling pattern. RESULTS: Among male workers, non-manual workers had the greatest age-adjusted prevalence (26.4%, 95% CI: 22.3-30.5%) among the occupational groups. In a logistic regression analysis, male manual workers had a significantly lower odds ratio for the metabolic syndrome relative to non-manual workers (0.59, 95% CI: 0.41-0.85). CONCLUSION: Our study demonstrated differences in the prevalence of the metabolic syndrome by occupational group and identified the greatest risk for the metabolic syndrome in male non-manual workers.

Central Pontine Myelinolysis in a Patient with Acute Lymphoblastic Leukemia after Hematopoietic Stem Cell Transplantation: A Case Report

We describe a 37-yr-old man who developed central pontine myelinolysis (CPM) after allogeneic hematopoietic stem cell transplantation (HSCT) for acute lymphoblastic leukemia. After HSCT, desquamation developed on the whole body accompanied by hyperbilirubinemia. The liver biopsy of the patient indicated graft-versus-host disease- related liver disease, and the dose of methylprednisolone was increased. Then, the patient developed altered mentality with eye ball deviation to the left, for which electroencephalogram and magnetic resonance imaging (MRI) scans were done. Brain MRI scan demonstrated the imaging findings consistent with central pontine myelinolysis and extrapontine myelinolysis. He did not have any hyponatremia episode during hospitalization prior to the MRI scan. To the best of our knowledge, presentation of CPM after allogeneic HSCT is extremely rare in cases where patients have not exhibited any episodes of significant hyponatremia. We report a rare case in which hepatic dysfunction due to graft-versus-host disease has a strong association with CPM after HSCT.

Biochemical Characteristics of Dysfunctional Fibrinogen Found in Korea / 대한혈액학회지

BACKGROUND: Hereditary dysfibrinogenemia is a rare cause of venous thromboembolism. Hereditary thrombophilia is diagnosed in about 10% of patients with thromboembolism, with the prevalence diagnosed increasing with the development of molecular biological method. METHODS: A 27-year-old woman was strongly suspected to have hereditary dysfibrinogenemia; therfore, an analysis of the molecular structure of the purified fibrinogen was performed. RESULTS: An SDS-PAGE analysis of the purified fibrinogen revealed no abnormal finding. The purified fibrinogen was treated with thrombin or coagulation factor XIII, and the products show no difference between the normal and patient's specimen on SDS-PAGE analysis. However, an HPLC analysis showed an additional abnormal peak prior to the normal fibrinopeptid A peak. CONCLUSION: A dysfunctional fibrinogen showing an abnormal peak on HPLC analysis was detected in a Korean patient. Her family also showed dysfunctional fibrinogen. In a Korean patient with recurrent thromboembolism, hereditary dysfibrinogenemia should also be taken into consideration.