No abstract available.
Genetic Therapy*

PURPOSE: The purpose of this study was to determine if there were prognostic differences between BRCA related and BRCA non-related Korean patients with early-onset breast carcinomas. MATERIALS AND METHODS: Sixty women who had developed breast cancers before the age of 40, and who were treated at the Soonchunhyang University Hospital, were studied independently of their family histories. The age range was 18 to 40 with a median of 34.5 years. Lymphocyte specimens from peripheral blood were studied for the heterozygous mutations of BRCA1 and BRCA2 using direct sequencing methods. Immunohistochemistry was performed on the paraffin-embedded tissue blocks that were available. RESULTS: Eleven deleterious mutations (18.3%, 6 in BRCA1 and 5 in BRCA2) and 7 missense mutations of unknown significance (11.7%), were found among the 60 patients. More than half of the mutation were novel, and were not reported in the database. Most of the BRCA-associated patients had no history of breast cancer. No treatment related failures were observed in the BRCA carriers, with the exception of one patientthat had experienced a new primary tumor of the contralateral breast. The seven year relapse free survival rate were 50 and 79% in the BRCA carrier and BRCA negative patients, respectively. Although the expression of estrogen and progesterone receptors were less common, and histological features more aggressive, in the BRCA associated tumors, the outcome of the patients with BRCA mutations was not poorer than that of the patients without deleterious mutations. CONCLUSION: Despite the BRCA mutation carriers having adverse prognostic features, the recurrence rate was relatively lower than that in the BRCA non-carrying Korean patients with early-onset breast carcinomas. In addition, although the prevalence of the BRCA mutation in Korean patients was higher than that in white patients, the penetrance of the cancer seemed to be relatively low in Korean women carrying BRCA mutations. A large population based study of the BRCA mutation, with a long-term follow-up of the study patients will be required to confirm these results.
Breast Neoplasms* ; Breast* ; Estrogens ; Female ; Follow-Up Studies ; Germ-Line Mutation* ; Humans ; Immunohistochemistry ; Lymphocytes ; Mutation, Missense ; Penetrance ; Prevalence ; Receptors, Progesterone ; Recurrence ; Survival Rate

PURPOSE: To evaluate the ultrasonographic findings of lateral epicondylitis and their relationship with clinical outcome. MATERIALS AND METHODS: The findings of ultrasonographic examinations of eighteen elbow joints in 15 patients [M:F=5:10 ; age:38-65(mean, 47.6) years] with lateral epicondylitis were reviewed. Two patients underwent surgery, two were not treated, and the remaining 11 were treated conservatively. Symptomatic improvement was noted 1 week after conservative treatment in two cases, at 2 weeks in five cases, at 3 weeks in three cases, and at 5 weeks in one case. With patients in the 90 degree flexed elbow position and in a supinated wrist, we examined the extensor carpi radialis brevis (ECRB) tendon around the lateral epicondyle using ultrasound equipment with a 7-11-MHz linear transducer. The findings were assessed in terms of swelling of the tendon, changes in its echotexture, the presence of calcification or cystic degeneration, loss of the hypoechoic band between the tendon and bony cortex of the lateral epicondyle, cortical irregularity of the lateral epicondyle, and fluid collection around the tendon. Any relationships between each ultrasonographic finding and the treatment interval after which symptomatic improvement was noted were evaluated. RESULTS: In the 18 joints, change was observed in the echotexture of all ECRB tendons. This included homogeneous hypoechogenicity in two cases, heterogeneous hypoechogenicity in 13, and heterogeneous mixed echogenicity in three. Other ultrasonographic findings were swelling of the tendon in ten cases, loss of the hypoechoic band in 14, cortical irregularity in five, calcification in four, cystic degeneration in nine, and fluid collection around the tendon in four. In patients treated conservatively, there was no statistically significant difference between each ultrasonographic finding and the treament interval after which symptomatic improvement was noted. CONCLUSION: Ultrasonography can be used to assess changes in the ECRB tendon and lateral epicondyle occurring in lateral epicondylitis, but fails to provide information on the rapidity of symptomatic improvement.
Elbow ; Elbow Joint ; Humans ; Humerus* ; Joints ; Tendinopathy ; Tendons ; Transducers ; Ultrasonography ; Wrist

Ectopic pancreas is commonly located at stomach, duodenum and jejunum. It is a relatively rare entity and is usually of no clinical importance which especially is a very rare source of massive upper gastrointestinal bleeding. We have recently experienced a case of an ectopic pancreas in the second portion of the duodenum which was proven to be a source of massive gastrointestinal bleeding by duodenoscopy and was confirmed by surgical exploration.
Duodenoscopy ; Duodenum* ; Esophagus* ; Hemorrhage* ; Intestines* ; Jejunum ; Pancreas* ; Stomach*

In critically ill patients, disseminated intravascular coagulation (DIC) is a common and fatal hematological disorder. DIC is a physiological response to a variety of underlying stimuli that provoke generalized activation of the hemostatic mechanism and is common in septic patients and those with hematological or non-hematological malignant neoplasms. Bleeding is a common clinical feature, and diffuse or multiple-site mucocutaneous bleeding, such as petechia, ecchymosis and hemorrhage from gastrointestinal tract, is often seen. A 58-year-old male was recently diagnosed with intracranial hemorrhage (ICH) caused by DIC associated with sepsis. Mortality of ICH caused by DIC is very high because the underlying condition cannot be quickly treated. Awareness of the possibility of DIC developing in a critically ill patient and the need for immediate initiation of plasma or platelet replacement therapy are important. To the best of our knowledge, this is the first reported case of intracranial hemorrhage in a Korean patient with DIC associated with sepsis.
Blood Platelets ; Critical Illness ; Dacarbazine ; Disseminated Intravascular Coagulation* ; Ecchymosis ; Gastrointestinal Tract ; Hemorrhage ; Humans ; Intracranial Hemorrhages* ; Male ; Middle Aged ; Mortality ; Plasma ; Sepsis*

PURPOSE: Enterobacter is one of the important organisms in neonatal intensive care unit. We reviewed the clinical characteristics, underlying diseases, invasive procedures during admission, mortality and antibiotic sensitivity of Enterobacter infection in NICU. METHODS: We retrospectively reviewed 21 neonatal patients whose blood cultures yielded Enterobacter between June 1994 and June 1997 at Dongguk University Hospital. RESULTS: Blood cultures were positive in 62 from 2,025 neonates and 21 was Enterobacter. The clinical spectrums were diverse such as sepsis (85%), pneumonia, disseminated intravascular coagulopathy and necrotizing enterocolitis. The underlying conditions upon admission were composed of prematurity (38%), hyaline membrane disease (38%), jaundice, sepsis and pneumonia. The procedures used during admission were endotracheal intubation (57%), mechanical ventilation (57%), umbilical vessel catheterization, gastric tube inserition, total parenteral nutrition and exchange transfusion. The antibiotic sensitivity was as follows : ampicillin (0%), ceftriaxone (0%), amikacin (55%), gentamicin (85%), ciprofloxacin (100%), imipenem (100%). Overall mortality was 26.5%. Mortality was significantly high in cases of leukopenia (P< or = 0.01), thrombocytopenia (P< or = 0.01) and use of inappropriate antibiotics (P< or = 0.01). CONCLUSION: Enterobacter is an important organism in the cause of nosocomial infection in NICU and has a high rate of mortality. Enterobacter infection was associated with prolonged hospitalization, invasive procedures and preceding antibiotics. Commonly used antibiotics such as penicillin and cephalosporin would be inappropriate for the treatment of Enterobacter infection. We consider the use of gentamicin or imipenem to be far more effective in the initial therapy of Enterobacter infection.
Amikacin ; Ampicillin ; Anti-Bacterial Agents ; Bacteremia* ; Catheterization ; Catheters ; Ceftriaxone ; Ciprofloxacin ; Cross Infection ; Enterobacter* ; Enterocolitis, Necrotizing ; Gentamicins ; Hospitalization ; Humans ; Hyaline Membrane Disease ; Imipenem ; Infant, Newborn ; Intensive Care, Neonatal* ; Intubation, Intratracheal ; Jaundice ; Leukopenia ; Mortality ; Parenteral Nutrition, Total ; Penicillins ; Pneumonia ; Respiration, Artificial ; Retrospective Studies* ; Sepsis ; Thrombocytopenia

PURPOSE: Sequence variants in the cell cycle checkpoint kinase 2 (CHEK2 1100delC) are associated with an increased risk for breast cancer in women carrying this mutation. It is a lowpenetrance breast cancer susceptibility allele, frequently observed in patients with a family history of breast cancer and/or young age, with the frequency varying according to race or ethnicity. In this study, we evaluated the significance of CHEK2 1100delC in predisposition to breast cancer by assessing its frequency in material from 101 Korean women patients with early-onset breast cancer. METHODS: One hundred and one Korean patients with earlyonset breast cancer (40 yr old or younger) were selected for this study. All the patients had been screened for BRCA1 and BRCA2 mutations and 14 patients had deleterious mutations. Of the 101 patients entered for this study, 14 had family history of breast cancer and 7 had bilateral breast cancers. Mutation detection of CHEK2 1100delC was based on analysis of primer extension products generated from previously-amplified genomic DNA using a chip based MALDI-TOP mass spectrometry platform (Sequenom, Inc., San Diego, CA, USA). RESULTS: None of the 101 Korean patients with a family history of breast cancer and early-onset breast cancer who were candidates for the BRCA1 and BRCA2 test carried the 1100 delC mutation, which is observed in Caucasians with limited frequency. CONCLUSION: We previously observed higher or comparable prevalence of BRCA1 and BRCA2 mutations in Korean patients with breast cancer compared to Caucasians. However, the CHEK2 1100delC mutation is absent or infrequent in Korean patients with breast cancer who have a high risk of BRCA1 and BRCA2 mutations, making its screening irrelevant.
Alleles ; Breast ; Breast Neoplasms ; Cell Cycle Checkpoints ; Continental Population Groups ; DNA ; Female ; Humans ; Lifting ; Mass Screening ; Mass Spectrometry ; Phosphotransferases ; Prevalence ; Protein-Serine-Threonine Kinases

PURPOSE: Intravenous gamma globulin(IVGG) treatment has reduced symptoms and complications in Kawasaki disease(KD). However, fever persisted in 20-30% of the patients, and there are no reliable data on the indication and dosage of IVGG re-treatment. Therefore, we tried to reveal the effectiveness of IVGG re-treatment and to find risk factors in predicting the re-treatment. METHODS: Among 57 patients with typical KD, 47(82.5%) patients were put into group A, which improved after the treatment with standard 2g/kg of IVIG. 10(17.5%) patients were put into group B, which retreated with 1-2g/kg of IVIG due to persistent fever for at least 3 days after standard IVIG therapy. We compared clinical symptoms, laboratory findings and echocardiograms between group A and B, retrospectively. RESULTS: All patients in group B responded IVGG re-treatment and no considerable side effects. The total duration of the fever was significantly longer(P<0.001) and the initial and peak levels of CRP and the peak levels of ESR were significantly higher(P<0.01) in group B compared to group A. Even though leukocytosis, cervical lymphadenitis and coronary artery aneurysm were more frequent, and the levels of serum lipids at admission were lower in group B, without significance. CONCLUSION: IVGG re-treatment appeared to be effective in the treatment of refractory KD, but could not reduce the incidence of coronary artery aneurysm. We concluded it was difficult to predict risk factors for IVGG re-treatment from these data. Further studies are needed to determine the indication and appropriate dosage of IVGG re-treatment.
Aneurysm ; Coronary Vessels ; Fever ; gamma-Globulins* ; Humans ; Immunoglobulins, Intravenous ; Incidence ; Leukocytosis ; Lymphadenitis ; Mucocutaneous Lymph Node Syndrome* ; Retrospective Studies ; Risk Factors

Primary cutaneous cryptococcosis is a fungal infection caused by Cryptococ cus neoformans which is frequently occurred in the immunosuppressed host. The treatment of primary cutaneous cryptococcosis is mainly fluconazole, and the prognosis is relatively good. We report a case of primary cutaneous cryptococcosis due to intravenous line on the left forearm after lumbar stenosis surgery in a patient with rheumatoid arthritis, who finally underwent second, fourth, and fifth ray amputation.
Amputation ; Arthritis, Rheumatoid* ; Constriction, Pathologic ; Cryptococcosis* ; Fluconazole ; Forearm ; Humans ; Immunocompromised Host ; Injections, Intravenous ; Prognosis ; Surgical Flaps

PURPOSE: Surgery for thyroid gland requires skin incisions that can result in postsurgical neck scar. To overcome this, many surgeons performed a endoscopic thyroidectomy. But, this approach had a some problems. One of postoperative problems, iatrogenic cervical dystonia(CD) may occur. At common, CD is defined as a syndrome characterized by prolonged muscle contraction causing twisting, repetitive movements or abnormal posture. Botulinum toxin A(BTA, Botox(R), Allergan, Irvine, CA, USA) is well known treatment agent in the treatment of CD. So, the authors applied BTA injection in rare case with iatrogenic CD resulting in endoscopic thyroidectomy. METHODS: A 43-year-old female had endoscopic subtotal thyroidectomy operation 3 years ago. She had symptoms such as progressive cervical pain, abnormal neck posture, depression, and sleep difficulty. About 1 year later, the patient who had previous myomectomy of the clavicular head of sternocleidomastoid muscle, however, symptoms were not improved. And then the patient received BTA therapy in our department. The 2 units per 0.1mL solution was administered in a 1mL tuberculin syringe. RESULTS: The dose of BTA used in the patient was 36 units for vertical platysmal bands, superficially, and 10 units for ipsilateral sternocleidomastoid muscle, intramuscularly. After 2 weeks, additional the dose of BTA used in the patient was 5 points for remained scar bands, superficially. Complications related to injection such as significant swallowing difficulties, neck muscle weakness, or sensory change were not observed. In 9 months follow-up, the patient maintained a good result from the method of BTA injection alone. CONCLUSION: The basic concept is selective denervation for the hyperactive individual muscles and scar bands. We conclude that BTA is an effective and safe treatment for CD despite the iatrogenic and complex presentation of this complication.
Adult ; Botulinum Toxins ; Cicatrix ; Deglutition ; Denervation ; Depression ; Female ; Follow-Up Studies ; Head ; Humans ; Muscle Contraction ; Muscles ; Neck ; Neck Muscles ; Neck Pain ; Posture ; Skin ; Thyroid Gland ; Thyroidectomy ; Torticollis ; Tuberculin