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

Induction of general anesthesia with tracheal intubation is routine proeedure but causes varying degrees of sympathetic stimulation such as increases in blood pressure and heart rate. Many approaches have been tried to attenuate these hemodynamic responses To evaluate the effects of clonidine, a-2 adrenergic receptor agonist, on the hemodynamic changes induced by intubation, we administered clonidine(5 ug/kg, P.O.) 90 minutes before induction of anesthesia. We measured systolic pressure, diastolic pressure and heart rate before premedication, before induction, after intubation and 5, 10 minutes after intubation and compared with control group. The results were as follows: 1) After intubation systolic and diastolic blood pressures increased significantly in both group(P<0.05) but the increasing rate was significantly less than in clonidine group. (P<0.05) 2) After intubation the increaae in heart rate in clonidine group was significantly less than in control group (p<0.05). 3) The trend of increase in heart rate in clonidine group was more stabilized than control group. 4) Systolic blood pressure and heart rate in clonidine group were significantly decreased in preinduction period after premedication.
Adrenergic Agonists ; Anesthesia ; Anesthesia, General ; Blood Pressure ; Clonidine* ; Heart Rate ; Hemodynamics ; Intubation* ; Premedication

No abstract available.
Pulmonary Atelectasis*

A case of carcinoma of the parathyroid gland causing hyperparathyroidism was experienced at the department of orthopaedic surgery, C.A.F.G.H. This patient, a 23 years old male, had complained of a left shoulder pain during the past 3months. And weakness of the lower extremities causing walking disturbance, multiple bone pain, and polyuria had occurred sinoe one month before admission. Physical examination revealed a hard palpable mass in the right anterior region of the neck. Radiologic examination revealed subperiosteal bone resorption in phalanges of the hands and feet, generalized osteoporosis and cystic lesions, and pathologic fracture of the ribs, left humerus, and left femur. Laboratory studies demonstrated hypercalcemia, hypophosphatemia, increased alkaline phosphatase and PTH, hypercalciuria, and hyperphophaturia. Sonogram and C-T scan of the neck revealed a mass in the right inferior portion of the thyroid. Rib biopsy revealed the findings of ostitis fibrosa cystica, and parathyroid gland and regional lymph node biopsy revealed a parathyroid carcinoma with regional lymph node metastasis.
Alkaline Phosphatase ; Biopsy ; Bone Resorption ; Femur ; Foot ; Fractures, Spontaneous ; Hand ; Humans ; Humerus ; Hypercalcemia ; Hypercalciuria ; Hyperparathyroidism ; Hypophosphatemia ; Lower Extremity ; Lymph Nodes ; Male ; Neck ; Neoplasm Metastasis ; Osteoporosis ; Parathyroid Glands ; Parathyroid Neoplasms ; Physical Examination ; Polyuria ; Ribs ; Shoulder Pain ; Thyroid Gland ; Walking

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*

BACKGROUND: Atopic dermatitis, characterized by dry, flasky, easily irritated skin, is the most common form of dermatitis seen during childhood. Infants with atopic dermatitis and other eczematous conditions need special dermatologic care to hydrate their skin and to minimize contact with irritants or allergens. OBJECTIVE: The purpose of our study is to evaluate the safety and efficacy of the skin products developed for children. METHODS: Twenty-eight normal children and 26 children with atopic dermatitis were evaluated clinically after using following commercal skin products : (lotion, cream, shampoo, soap, face wash wash) for 2 weeks. Water content of the skin of 14 volunteers was measured serialy over 8 haurs at 2 hour intervals after the application of each skin product. The skin pH of 16 volunteers was also measured serialy over 60 minutes at 30 minute intervals after application. We performed visual skin erythema grading, skin erythema grading by dermaspectrometer, transepidermal water loss measurement, skin water content measurement, and keratinocyte morphology observation by D-squame after the application of the skin products to 13 volunteers for 4 days.
Allergens ; Carcinoma, Basal Cell ; Carcinoma, Squamous Cell ; Child ; Dermatitis ; Dermatitis, Atopic ; Erythema ; Humans ; Hydrogen-Ion Concentration ; Infant ; Irritants ; Keratinocytes ; Keratosis, Seborrheic ; Skin* ; Soaps ; Volunteers

OBJECTIVE: During the follow-up period of extrahepatic malignancy, one may encounter a solitary hepatic metastasis on CT scan which may be difficult to differentiate from hepatic abscess in an ambiguous clinical setting. It was our intention to copmare the radiological similarities and differences between two disease entities from which differentiation can be attempted. MATERIALS AND METHODS: Thirty-six cases of solitary heaptic meastesis and 23 cases of liver abscess were included in this study. Two radiologists interpreted the CT without knowledge of the clinical informations. CT pattern was categorized and the frequency of various findings were compared between the two groups. CT findings of the mass were analysed in misinterpreted cases. RESULTS: Without the clinical informations, the diagnostic accuracy of the mass was 72-76% without pattern analysis. Homogeneous masses were seen in both groups, but all masses larger than 4cm were metastases. In heterogeneous masses, metatases more frequently accompanied high attenuation in central or peripheral portion of the mass and showed thick intermediate zone, Irregular trabecular pattern or septations were more frequently observed in abscesses. Biliary dilatation or stone, pleural effusion, air in mass or biliary tree were more frequently seen in abscesses. The false diagnosis was encountered most frequently when the mass possessed any of the followings; homogeneous attenuation, mosaic pattern in the mass with inhomogeneous attenuation and thin intermediate attenuation area. CONCLUSION: Pattern analysis of the various CT character will be helpful to differentiate hepatic abscess and solitary hepatic metastasis in the equivocal clinical settings. However, similar pattern can be seen in both entities ;in this cases, corrdination of CT pattern and secondary findings is needed for better differentiation.
Abscess ; Biliary Tract ; Diagnosis ; Dilatation ; Follow-Up Studies ; Intention ; Liver Abscess* ; Neoplasm Metastasis ; Pleural Effusion ; Tomography, X-Ray Computed

BACKGROUND: Spontaneous hemopneumothorax is characterized by the accumulation of air and more than 400 mL of blood in pleural cavity without any apparent cause. It is a rare disease and can cause life-threatening situation. We analyzed clinical reviews of two medical centers to aid in optimal management. MATERIAL AND METHOD: Retrospective review between March 2003 and August 2010 with 18 spontaneous hemopneumothorax patients was made. RESULT: These 18 patients were comprised of 15 male and 3 female with average 24.6 years (range 15~46 years). Almost patients (16) underwent a closed thoracostomy initially and 15 patients received video-assisted thoracic surgery (VATS). Mean postoperative chest tube removal was 2.9 days and one complication was post-removal pneumothorax. During the follow-up periods there were no other complications and recurrence. CONCLUSION: Proper initial diagnosis and management of spontaneous hemopneumothorax prevent significant hypovolemic shock. Video-assisted thoracic surgery should be considered an early surgical management in spontaneous hemopneumothorax. However conservative manage without bleb excision may be effective in selected patients.
Blister ; Chest Tubes ; Female ; Follow-Up Studies ; Hemopneumothorax ; Hemothorax ; Humans ; Male ; Pleural Cavity ; Pneumothorax ; Rare Diseases ; Retrospective Studies ; Shock ; Thoracic Surgery, Video-Assisted ; Thoracostomy

BACKGROUND: Pneumonia is the most common cause of death among patients with infectious disease in Korea. However, studies of pneumonia with septic shock in patients presenting to the emergency department are limited. The aim of this study was to investigate the prognostic factors associated with pneumonia with septic shock in patients presenting to the emergency department. METHODS: From January 2008 to September 2014, patients with pneumonia with septic shock admitted through the emergency department were retrospectively examined. RESULTS: Of the 561,845 patients who visited the emergency department, 398 were admitted for pneumonia with septic shock. The 28-day mortality rate in these patients was 36.4%. The independent prognostic factors were old age (>70 yrs) (odds ratio [OR], 2.42; 95%, confidence interval [CI], 1.35-4.32), Acute Physiology and Chronic Health Evaluation (APACHE) II score (OR, 1.04; 95% CI, 1.01-1.08), leukopenia (OR, 3.63; 95% CI, 1.48-8.94), prolonged PT-INR (OR, 2.53; 95% CI, 1.41-4.54), and hypoxemia (OR, 2.88; 95% CI, 1.30-6.38). CONCLUSIONS: A poor prognosis of patients with pneumonia is associated with old age (>70 yrs), increased APACHE II score, leukopenia, prolonged PT-INR, and hypoxemia.
Anoxia ; APACHE ; Cause of Death ; Communicable Diseases ; Emergencies* ; Emergency Service, Hospital* ; Humans ; Korea ; Leukopenia ; Mortality ; Pneumonia* ; Prognosis ; Retrospective Studies ; Shock, Septic*

OBJECTIVE: Although twist-drill craniostomy (TDC) has a number of procedural advantages and an equivalent outcome compared to burr hole craniostomy (BHC) for the treatment of chronic subdural hematomas (CSDHs), the latter technique remains the preferred method. We analyzed symptomatic CSDHs in whom TDC at the pre-coronal suture entry point (PCSEP) was the primary method for hematoma drainage and BHC on the parietal was the secondary option. METHODS: CSDHs in 86 consecutive patients were included. TDC at the PCSEP, which is 1 cm anterior to coronal suture at the level of the superior temporal line, was the primary operational technique when the hematoma thickness was suitable, and BHC was performed via the parietal when TDC was unreasonable or failed. The clinical feasibility and outcomes of these approaches were analyzed. RESULTS: Of the 86 patients, 68 (79.1%) were treated by TDC, and 18 (20.9%) by BHC. All patients showed improvements in their symptoms after hematoma drainage. Neither morbidity nor mortality was associated with either technique, and there were no differences in drainage days between the groups. Ten patients had bilateral hematomas and were treated using TDC. Two patients were not sufficiently treated by TDC and, as a result, BHC was applied. Only six hematomas (7% of 86 hematomas) exhibited insufficient thickness on the computed tomography to perform TDC. CONCLUSION: When the hematoma was thick enough, a majority of the CSDHs were drained using TDC at the PCSEP as the first procedure, which was especially useful for bilateral hematomas and in elderly patients.
Aged ; Drainage* ; Hematoma ; Hematoma, Subdural, Chronic* ; Humans ; Methods ; Mortality ; Rabeprazole ; Sutures