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

This study was undertaken to make current fetal growth curve throughout later part of pregnancy. 5,110 normal singleton deliveries at Il Shin Christian Hospital were included. The 10th, 25th, 50th, 75th, 90th percentiles of birth weight were calculated from 21 to 42 weeks' gestation and the 10th, 50th, 90th percentiles of birth weight compared by fetal sex, maternal parity and height were graphed to know the potency of factors. There was a linear growth pattern between 28 and 38 weeks' gestation. During last month of prgnancy, three factors have significant effect on median birth weight but no significant differences in 10th percentiles. Maternal height & parity significantly affeect on 90th percentiles. So, these factors must be considered when diagnosing large for date.
Birth Weight* ; Female ; Fetal Development ; Gestational Age* ; Parity ; Parturition* ; Pregnancy

Cerebral arterial embolism which resulted in total occlusion of right proximal middle cerebral artery was occured in 33 years old female patients with severe mitral stenosis and atrial fibrillation during percutaneous mitral balloon valvuloplasty(PMV). The occluded artery could be detected by transfemoral carotid angiography and recanalized immediately by intra-arterial infusion of urokinase. There were no cerebral hemorrhage by CT scan after intra-arterial urokinase infusion and the patients discharged without any neurologic sequale 7 days after thrombolysis. We report a case of successful recanalization with intraarterial infusion of urokinase in patient with cerebral arterial embolism occurred during PMV.
Adult ; Angiography ; Arteries ; Atrial Fibrillation ; Cerebral Hemorrhage ; Embolism* ; Female ; Humans ; Infusions, Intra-Arterial* ; Intracranial Embolism ; Middle Cerebral Artery ; Mitral Valve Stenosis ; Tomography, X-Ray Computed ; Urokinase-Type Plasminogen Activator*

Gartner duct cysts are relatively common congenital cysts in the anterolateral wall of the vagina. Most are small (less than 2 cm) and asymptomatic, but larger cysts may cause problems. We report a rare case of a giant Gartner duct cyst (7 cm) originating from the right lateral portion of the uterine cervix and adjacent myometrium. It appeared as an exophytic multiseptated cystic mass containing different density fluids on CT.
Animals ; Cervix Uteri ; Female ; Mice ; Myometrium ; Vagina

Ionized hypocalcemia is a common finding in critically ill patients, but the relationship between ionized hypocalcemia and mortality risk in trauma patients has not been well established. The aim of this study was to assess the usefulness of initial ionized calcium (iCa) in predicting mortality in the trauma population, and evaluate its superiority over the three other triage tools: base deficit, systemic inflammatory response syndrome (SIRS) score, and triage-revised trauma score (t-RTS). A proand retrospective study was performed on 255 consecutive trauma patients admitted to our Emergency Medical Center from January to December, 2005, who underwent arterial blood gas analysis. Multivariate logistic regression analysis confirmed iCa (< or =0.88 mM/L), low Glasgow coma scale score, and a large transfusion amount to be significant risk factors associated with mortality (p<0.05). The sensitivities of iCa, base deficit, SIRS score, and t-RTS were 82.9%, 76.4%, 67.1%, and 74.5%, and their specificities were 41.0%, 64.1%, 64.1%, and 87.2%, respectively. Receiver operating characteristic curve analysis determined the areas under the curves of these parameters to be 0.607+/-0.062, 0.736+/-0.056, 0.694+/-0.059, and 0.875 +/-0.043, respectively (95% confidence interval). Although initial iCa (< or =0.88 mM/L) was confirmed as a significant risk factor associated with mortality, it exhibited a poorer discriminative power for mortality prediction than other predictors, especially t-RTS.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Area Under Curve ; Calcium/*blood ; Female ; Humans ; Male ; Middle Aged ; Prospective Studies ; Retrospective Studies ; Systemic Inflammatory Response Syndrome/blood/mortality ; *Triage ; Wounds and Injuries/*blood/mortality

PURPOSE: A scaphoid fractures (SF), an important injury with acute pain, may not be diagnosed on the initial X-rays in the emergency department. Some authors have suggested that several clinical examinations are necessary to reliably confirm the presence of a fractured scaphoid in those patients presenting with an injury clinically suggestive of such a fracture, but without a fracture visible on the initial Xrays. we performed this prospective study to evaluate the efficacy of clinical signs believed to be useful in the diagnosis of a SF. METHODS: We performed a 1-year prospective study on 127 patients with suspected SFs. They were examined on two separate occasions : first in the emergency department and then in the outpatient clinic of the orthopedic department 2 weeks later. Tenderness in the anatomical snuff box (ASB), tenderness over the scaphoid tubercle (ST), and pain on longitudinal compression with the thumb (LC) were evaluated. RESULTS: At the initial examination, the ASB, the ST and LC were all 100% sensitive for detecting a SF with specificities of 40%, 49%, and 59%, respectively. These clinical signs, used in combination within the first 24 hours following injury, produced 100% sensitivity and an improvement in the specificity to 76%. Ninety-one (91) patients had one or more of positive clinical tests, with 18 of those patients having a SF visible on the initial X-ray and five having a fracture diagnosed either by repeated X-ray or CT 2 weeks after the injury. CONCLUSION: Our results suggest that the clinical signs ASB, ST, and LC are inadequate indicators of a SF when used alone and should be combined to achieve a more accurate clinical diagnosis.
Acute Pain ; Ambulatory Care Facilities ; Diagnosis* ; Emergency Service, Hospital ; Humans ; Orthopedics ; Physical Examination* ; Prospective Studies ; Sensitivity and Specificity ; Thumb ; Tobacco, Smokeless

The aim of this study was to identify factors that predict morbidity and mortality in patients with traumatic pancreatic injuries. A retrospective review was performed on 75 consecutive patients with traumatic pancreatic injuries admitted to the Emergency Medical Center at Masan Samsung Hospital and subsequently underwent laparotomy during the period January 2000 to December 2005. Overall mortality and morbidity rates were 13.3% and 49.3%, respectively. A multivariate regression analysis revealed that greater than 12 blood transfusions and an initial base deficit of less than -11 mM/L were the most important predictors of mortality (p<0.05). On the other hand, the most important predictors of morbidity were surgical complexity and an initial base deficit of less than -5.8 mM/L (p<0.01). These data suggests that early efforts to prevent shock and rapidly control of bleeding are most likely to improve the outcome in patients with traumatic pancreatic injuries. The severity of pancreatic injury per se influenced only morbidity.
Adult ; Blood Transfusion ; Female ; Humans ; Male ; Middle Aged ; Multivariate Analysis ; Pancreas/*injuries/surgery ; Prognosis ; Retrospective Studies ; Wounds and Injuries/mortality

PURPOSE: The purpose of this study was to review our clinical experiences of acute mesenteric ischemic disease at the Masan Samsung hospital. METHOD: Retrospectively reviewed the medical records of 20 patients with acute mesenteric ischemic disease from 1998 through 2003 in terms of clinical characteristics, image findings, management and results. RESULT: The mean age of patients was 63.5 years and the male female ratio was 1.5:1. Coexisting diseases were atrial fibrillation (n=10), hypertension (n=9), myocardial infarction (n=2), DM (n=4). The clinical manifestations were abdominal pain, abdominal distension, peritoneal irritation signs, vomiting and melena. The presenting signs were nonspecific. Laboratory findings were nonspecific and not helpful for diagnosis of acute mesenteric ischemia. Abdominal CT and SMA angiography were accurate and sensitive diagnostic tools. Seventeen cases were SMA occlusion (1 case: SMA dissection) and 3 cases were SMV occlusion. Operative procedures were resection of bowel (12 cases) and thromboembolectomy (5 cases). Non operative procedure was anticoagulation (3 cases). One patient refused surgery. CONCLUSION: Both clinical and laboratory data were non-specific and delayed diagnosis was the main cause of the overall mortality rate of 35% (7 cases). The mortality rate for patients undergoing surgery for acute mesenteric ischemic disease was high, but early diagnosis and intensive care may be reduced mortality.
Abdominal Pain ; Angiography ; Atrial Fibrillation ; Critical Care ; Delayed Diagnosis ; Diagnosis ; Early Diagnosis ; Embolism ; Female ; Humans ; Hypertension ; Ischemia* ; Male ; Medical Records ; Melena ; Mesenteric Vascular Occlusion ; Mortality ; Myocardial Infarction ; Retrospective Studies ; Surgical Procedures, Operative ; Thrombosis ; Tomography, X-Ray Computed ; Vomiting

BACKGROUND: The triage-revised trauma score(t-RTS) is used for triage in trauma patients in many countries. Recently, the triage score was developed as a new triage method for trauma patients in Korea. The objective of this study was to assess the accuracy of triage for the t-RTS and the triage score. METHODS: The medical records of 1575 consecutive trauma patients visiting the Emergency Center, Masan Samsung Hospital, from March to August 1999 were retrospectively analyzed. The triage score and the t-RTS were taken from the charts completed by the emrgency room doctors and nurses. The accuracies of the two triage methods were compared by using the undertriage and the overtriage rates, receiver operating characteristic(ROC) curve analysis, and a correlation analysis with many physiologic, anatomical, biochemical, and mixed scores(Glasgow coma scale, injury severity score, TRISS, APACHE II and III scores, operation, survival, etc.). RESULTS: The undertriage rates for the triage score and the t-RTS were 22.8% and 38.2%, r e s p e c t i v e l y ( p APACHE ; Coma ; Emergencies ; Humans ; Injury Severity Score ; Korea ; Medical Records ; Retrospective Studies ; ROC Curve ; Triage*

PURPOSE: This study aimed to determine new criteria for detecting independent factors with high sensitivity in cases of cervical spine injury. We compared the sensitivity, the specificity, and the false negative predictive value (NPV) of plain radiographs with those of computed tomography for cervical spine injury in patients with minor head injury. METHODS: We retrospectively reviewed the cases of 357 patients who underwent both cervical plain radiographs and computer tomography from January 2006, to September 2008. Patients were divided into two groups: the cervical spine injury group and the no cervical spine injury group. New criteria were organized based on variables that had significant differences in the logistic regression test. RESULTS: Among the 357 patients, 78 patients had cervical spine injuries. The average age was 43.9+/-15.2 yrs old, and the male-to-female ratio was 1.90. The most common mechanism of injury was motor vehicle accidents. There was a significant difference in loss of consciousness, Glasgow Coma Scale (GCS)=14, neurologic deficit, posterior neck tenderness, and abnormality of the cervical plain radiographs between the two groups on the logistic regression test. New criteria included the above five variables. If a patient has at least variable, the area under the ROC curve of the new criteria was 0.850, and the sensitivity and the false NPV were 87.2% and 5.2%, respectively. CONCLUSION: New criteria included loss of consciousness, GCS=14, neurologic deficit, posterior neck tenderness, and abnormality of the cervical plain radiographs. If the patient had at least 1 variable, he or she could have a of cervical spine injury with a sensitivity of 87.2% and a false NPV of 5.2%.
Cervical Vertebrae ; Craniocerebral Trauma ; Female ; Glasgow Coma Scale ; Head ; Humans ; Logistic Models ; Motor Vehicles ; Neck ; Neurologic Manifestations ; Physical Examination ; Retrospective Studies ; ROC Curve ; Sensitivity and Specificity ; Spine ; Unconsciousness