BACKGROUND: Oculocutaneous albinism (OCA) is a genetic disorder of the melanin pigment system in which melanin synthesis is reduced or absent in the skin, hair, and eyes. OCA is classified into two major types, and tyrosinase-related OCA can be produced by mutations of the structural gene for tyrosinase enzyme (TYR gene). OBJECTIVE: The purpose of this study was to analyze the segregation of mutant alleles of the TYR gene in tyrosinase-negative and tyrosinase-positive Korean OCA patients and families. METHODS: We amplified exon I, II, and III of the TYR gene of Korean OCA patients and their families by polymerase chain reactions (PCR), and analyzed the mutations by restriction fragment length polymorphism (RFLP) analysis in exon I and single-strand conformation polymorphism (SSCP) analyses in exon II and exon III. RESULTS: Two tyrosinase-negative cases showed mutations in exon I. Four tyrosinase-nega-tive cases and one tyrosinase-positive case showed mutations in exon II, and one tyrosinase-neg- ative case showed mutations in exon III. In summary, we found three kinds of mutation in four tyrosinase-negative OCA patients and one tyrsinase-positive OCA patient. CONCLUSIONS: RFLP and SSCP analysis can provide a basis for a rapid and sensitive screening system to detect TYR gene mutations of Korean OCA patients and their families.
Albinism, Oculocutaneous* ; Alleles ; Exons ; Hair ; Humans ; Korea* ; Mass Screening ; Melanins ; Monophenol Monooxygenase ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single-Stranded Conformational ; Skin

PURPOSE: This study tried to understand discourses of life-sustaining treatments in general daily and healthcare newspapers. METHODS: A text-network analysis was conducted using the NetMiner program. Firstly, 572 articles from 11 daily newspapers and 258 articles from 8 healthcare newspapers were collected, which were published from August 2013 to October 2016. Secondly, keywords (semantic morphemes) were extracted from the articles and rearranged by removing stop-words, refining similar words, excluding non-relevant words, and defining meaningful phrases. Finally, co-occurrence matrices of the keywords with a frequency of 30 times or higher were developed and statistical measures—indices of degree and betweenness centrality, ego-networks, and clustering—were obtained. RESULTS: In the general daily and healthcare newspapers, the top eight core keywords were common: “patients,” “death,” “LST (life-sustaining treatments),” “hospice palliative care,” “hospitals,” “family,” “opinion,” and “withdrawal.” There were also common subtopics shared by the general daily and healthcare newspapers: withdrawal of LST, hospice palliative care, National Bioethics Review Committee, and self-determination and proxy decision of patients and family. Additionally, the general daily newspapers included diverse social interest or events like well-dying, euthanasia, and the death of farmer Baek Nam-ki, whereas the healthcare newspapers discussed problems of the relevant laws, and insufficient infrastructure and low reimbursement for hospice-palliative care. CONCLUSION: The discourse that withdrawal of futile LST should be allowed according to the patient's will was consistent in the newspapers. Given that newspaper articles influence knowledge and attitudes of the public, RNs are recommended to participate actively in public communication on LST.
Advisory Committees ; Bioethics ; Delivery of Health Care ; Euthanasia ; Farmers ; Hospice and Palliative Care Nursing ; Hospice Care ; Hospices ; Humans ; Jurisprudence ; Life Support Care ; Palliative Care ; Periodicals ; Proxy ; Semantics

PURPOSE: We undertook this study to evaluate the significance of p53 immunoreactivity in squamous cell carcinoma of the cervix, treated with radiotherapy alone. MATERIALS AND METHODS: Immunohistochemical staining of p53 proteins were performed in eighty patients with squamous cell carcinoma of the cervix, and who completed curative radiotherapy between Jan. 1996 and Apr. 1998 at the Department of Therapeutic Radiology, Chonnam National University Hospital. External- beam radiotherapy was combined with intracavitary brachytherapy. Results were analyzed for the end points of pelvic tumor control and distant failure rates. The follow-up time ranged from 7 to 58 months with a median of 40 months. RESULTS: p53 positive and negative groups involved 45 and 35 patients, respectively, and the positive p53 immunoreactivity rate was 56% (45/80). p53 immunoreactivity showed no significant correlation with age, tumor size, serum tumor marker (SCC), or HPV18 expression, while there was a statistically marginally significant correlation with HPV16 expression. The pelvic tumor control rate of the p53 positive group was 87% and that of p53 negative group was 83% (0.05). The other parameters influencing negatively to the pelvic tumor control and with statistical significance were tumor ulceration and barrel type. Multivariate analysis also showed that p53 immunoreactivity had no prognostic value for pelvic tumor control of the disease, and that the statistically significant factor was tumor ulceration. The treatment failure rate of the p53 positive group was 23% and that of the negative group was 26% (p>0.05). CONCLUSION: p53 immunoreactivity in the cervix cancer stage IB, II patients seems to have no value as a predictor of tumor behavior after curative radiotherapy.
Brachytherapy ; Carcinoma, Squamous Cell* ; Cervix Uteri* ; Female ; Follow-Up Studies ; Humans ; Jeollanam-do ; Multivariate Analysis ; Radiation Oncology ; Radiotherapy* ; Treatment Failure ; Ulcer ; Uterine Cervical Neoplasms

A 20-year-old male was admitted to our hospital due to a cosmetic problem of gynecomastia. He received a surgical resection of subcutaneous fat through an incision in the periareolar area under general anesthesia. On the postoperative fifth day, he complained of intraoral pain due to an oral ulcer. He was prescribed benoxinate at 4 mL (12 mg) for use by gargling, but instead he injected it intravenously by himself. He experienced severe tremors in the extremities, chest discomfort, and palpitation immediately after injection, and sinus tachycardia was noted on the electrocardiogram. We managed his symptoms by hydration with normal saline and oxygen supplementation. Seven hours later, his symptoms had subsided, and no further complications were observed.
Anesthesia, General ; Anesthetics ; Electrocardiography ; Extremities ; Gynecomastia ; Humans ; Male ; Oral Ulcer ; Oxygen ; Subcutaneous Fat ; Tachycardia, Sinus ; Thorax ; Tremor ; Young Adult

No abstract available.
Adult* ; Humans ; Intussusception* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Recurrence*

AMP-activated protein kinase (AMPK) protects various tissues and cells from ischemic insults and is activated by many stimuli including mechanical stretch. Therefore, this study investigated if the activation of AMPK is involved in stretch-induced cardioprotection (SIC). Intraventricular balloon and aorto-caval shunt (ACS) were used to stretch rat hearts ex vivo and in vivo, respectively. Stretch preconditioning reduced myocardial infarct induced by ischemia-reperfusion (I/R) and improved post-ischemic functional recovery. Phosphorylation of AMPK and its downstream substrate, acetyl-CoA carboxylase (ACC) were increased by mechanical stretch and ACC phosphorylation was completely blocked by the AMPK inhibitor, Compound C. AMPK activator (AICAR) mimicked SIC. Gadolinium, a blocker of stretch-activated ion channels (SACs), inhibited the stretch-induced phosphorylation of AMPK and ACC, whereas diltiazem, a specific L-type calcium channel blocker, did not affect AMPK activation. Furthermore, SIC was abrogated by Compound C and gadolinium. The in vivo stretch induced by ACS increased AMPK activation and reduced myocardial infarct. These findings indicate that stretch preconditioning can induce the cardioprotection against I/R injury, and activation of AMPK plays an important role in SIC, which might be mediated by SACs.
Acetyl-CoA Carboxylase ; AMP-Activated Protein Kinases ; Animals ; Calcium Channels, L-Type ; Diltiazem ; Gadolinium ; Heart ; Ion Channels ; Myocardial Infarction ; Phosphorylation ; Rats ; Reperfusion Injury

Purpose: We investigated the clinical features and risk factors associated with the onset of uveitis in patients with ankylosing spondylitis. Methods: A survey was conducted targeting patients with ankylosing spondylitis who have experienced uveitis. The questionnaire collected information on demographic characteristics, clinical features, and lifestyle-related risk factors for uveitis including stress, sleep quality, rest periods, eating habits, and intake of caffeine, alcohol, and tobacco. Respondents were asked to recall their condition at the time of their most recent uveitis flare-up and rate it on a 5-point scale (1 = good to 5 = bad). Results: The study included 47 patients with ankylosing spondylitis; the average age was 40.0 years, 68.1% were male, and 89.4% tested positive for human leukocyte antigen (HLA)-B27. The average treatment duration for uveitis was 5.2 weeks, with an average recurrence rate of 4.5 times. The most common symptom at the time of uveitis was eye redness (87.2%). The average scores for the surveyed risk factors were as follows: stress, 4.1 points; sleep, 3.1 points; rest, 3.4 points; eating habits, 2.9 points; caffeine intake, 3.3 points; alcohol intake, 2.4 points; and smoking, 2.5 points. No significant correlation was found between age, uveitis treatment duration, number of recurrences, and any of the surveyed scores. Conclusions Patients with ankylosing spondylitis appeared to experience higher levels of stress during episodes of uveitis; however, further investigation is needed.

35 cases of Mallory-Weiss syndrome among 277 cases of upper gastrointestinal bleeding were ascertained by endoscopy at department of internal medicine St. Columban's hospital. The mean age was 41.6 years. All of 35 cases were found in male. Combined disease were gastritis(15 cases), peptic ulcer(7 cases) and esophageal varix(3 cases). The most common precipitating factor was vomiting, 22 cases among the 28 cases of vomiting(80%) developed after drinking. Endoscopic finding revealed active bleeding in 5 cases, blood clot without active bleeding in 22 cases, and scar change without bleeding evidence in 8 cases. Most cases had had hematemesis after active bleeding but 5 cases had had only melena without hematemesis. The Mallory-Weiss lacerations were located at stomach in 16 cases(46%), at esophagogastric junction in 11 cases(31%) and at esophagus in 8 cases. On the view of gastric direction, 14 cases were on anterior wall side, 9 cases were on posterior wall side, 11 cases were on lesser curvature side and one case was on great curvature side. Single lacerations were more common than multiple lacerations.
Cicatrix ; Drinking ; Endoscopy* ; Esophagogastric Junction ; Esophagus ; Hematemesis ; Hemorrhage ; Humans ; Internal Medicine ; Lacerations ; Male ; Mallory-Weiss Syndrome ; Melena ; Precipitating Factors ; Stomach ; Vomiting

Bezoars are persistent concretions of indigestible matter, usually seen in the stomach. But very rarely have bezoars been reported in the esophagus.. Most esophageal bezoars are either phytobezoars or medication bezoars occuring usually in the middle aged & elderly associated with underlying anatomical or functional abnormalities of esophagus. A variety of techniques has been developed recently in diagnostic and therapeutic endoscopy. So endoscopic management is safe and successful in most cases those required surgical management. We experienced an esophageal bezoar consisted with esophageal candidiasis in a patient who underwent esophago-gastric anastomosis and proximal gastrectomy due to early gastric cancer. The bezoar was removed by endoscopy and the esophago-gastric stenosis was treated with balloon dilator without any significant complication.
Aged ; Bezoars* ; Candidiasis* ; Constriction, Pathologic ; Endoscopy ; Esophagus ; Gastrectomy ; Humans ; Middle Aged ; Stomach ; Stomach Neoplasms

OBJECTIVE: Patients with schizophrenia are at a higher risk for developing insulin resistance and type 2 diabetes mellitus (T2DM). However, few studies have examined abdominal fat and mid-thigh low-density muscle areas, which are known risk factors for insulin resistance and T2DM, in patients with schizophrenia. Therefore, we measured the abdominal fat and mid-thigh low-density muscle areas of schizophrenics and compared them with normal controls. METHODS: Nineteen (four men and 15 women) drug-naive or -free subjects who met the DSM IV criteria for schizophrenia and 19 age- and sex-matched controls were recruited. We measured weight, height, waist circumference, and percent body fat, and calculated the body mass index (BMI). Abdominal fat and mid-thigh low-density muscle areas were evaluated using computed tomography. RESULTS: There was no significant difference in terms of age and BMI between the two groups. The areas of abdominal fat (262.4+/-101.8 vs. 257.1+/-93.8 cm2 ; p=0.919), subcutaneous fat (182.4+/-72.8 vs. 180.5+/-75.1 cm2 ; p=0.988), visceral fat (79.9+/-47.2 vs. 76.6+/-49.3 cm2 ; p=0.872), and mid-thigh low-density muscle (15.0+/-9.9 vs. 15.4+/-5.2 cm2, p=0.373) did not differ between schizophrenics and controls. CONCLUSION: Abdominal obesity is a well-recognized risk factor for developing certain medical conditions such as insulin resistance and T2DM. We demonstrated that drug-naive or- free patients with schizophrenia do not have increased visceral fat or mid-thigh low-density muscle areas, which might have explained the higher prevalence of insulin resistance and T2DM in these patients.
Abdominal Fat* ; Adipose Tissue ; Body Mass Index ; Diabetes Mellitus, Type 2 ; Humans ; Insulin Resistance ; Intra-Abdominal Fat ; Male ; Obesity, Abdominal ; Prevalence ; Risk Factors ; Schizophrenia* ; Subcutaneous Fat ; Waist Circumference