Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 1q usually demonstrates fetal growth restriction and anomalies of head, face, urogenital tract, heart, finger and toes with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 1q in Korea. We present the case of recurrent partial trisomy 1q in maternal balanced translocation which was prenatally diagnosed by amniocentesis with fluorescence in situ hybridization(FISH) based on abnormal ultrasonographic findings and poor obstetric history.
Amniocentesis ; Fetal Development ; Fingers ; Fluorescence ; Head ; Heart ; Korea ; Prenatal Diagnosis ; Toes ; Trisomy*

BACKGROUND: Patients with cardiac diseases who have structural defects in their heart bring about metabolic insult such as preoperative acid-base imbalance. Cardiac operation requires many nonphysiologic procedures such as extracorporeal circulation, hypothermia, and hemodilution. We studied the acid-base status of surgical heart diseases pre-operatively, during extracorporeal circulation, and post-operatively and researched the treatment indications of acid-base disturbances. MATERIAL AND METHOD: From January 1997 to May 1999, fifty two cases of open heart surgery were carried out under extracorporeal circulation, which divided into a set of pediatric and adult groups, congenital and acquired groups, non-cyanotic and cyanotic groups, The alpha-stat arterial blood gas analysis was done in each group during the preoperative period, during the operation with extracorporeal circulation, and during the postoperative period. RESULT: Before surgery, all patients present metabolic acidosis, PaO2 was low in adult group and acquired group and compensatory respiratory alkalosis was noted in cyanotic group. During extracorporeal circulation, adult group revealed alkalosis and normal in acquired group. Pediatric group presents low PaCO2, metabolic acidosis and respiratory alkalosis. Congenital group and non-cyanotic group showed non-compensatory alkalosis trend and non-compensatory respiratory acidosis were observed in cyanotic group during extracorporeal circulation. Postoperative acid-base status of adult group was recovered to normal and the standard bicarbonate was increased in the acquired group. All of the pediatric, congenital non-cyanotic, and cyanotic groups revealed the lack of buffer base. CONCLUSION: In Preoperative period, correction of metabolic acidosis was required in pediatric, congenital and non-cyanotic groups, while treatment of metabolic acidosis and low PaCO2 were required in adult and acquired groups. In the cyanotic group, metabolic acidosis and respiratory alkalosis needed to be corrected preoperatively. Using the extracorporeal circulation, minimal correction was required except acquired group which showed normal acid-base balance. In postoperative period, restriction of bicarbonate was required for acquired group while increase of buffer base was required for pediatric, congenital, non-cyanotic, and cyanotic groups.
Acid-Base Equilibrium ; Acid-Base Imbalance ; Acidosis ; Acidosis, Respiratory ; Adult ; Alkalosis ; Alkalosis, Respiratory ; Blood Gas Analysis ; Extracorporeal Circulation* ; Gases* ; Heart Diseases* ; Heart* ; Hemodilution ; Humans ; Hypothermia ; Postoperative Period* ; Preoperative Period* ; Thoracic Surgery

BACKGROUND: Although used for obtund pain, bupivacaine may itself initially produce pain on injection. This study was designed to evaluate the effect of diluting bupivacaine with normal saline, lactated Ringer's solution, 5% dextrous in water and distilled water on perception of pain associated with intramuscular injection. METHODS: Twenty-five healthy volunteers were involved in this study. Each subject received 4 injections in random order: 0.25% bupivacaine in normal saline, lactated Ringer's solution, 5% dextrous in water and distilled water. Both upper trapezius muscles were used for the intramuscular injection site. Needle size (25-gauge), injection depth (1.5-2 cm), injection volume (2.5 ml), administration speed (0.5 ml/sec), and temperature (room) were controlled for each of the four injections. The intensity of pain was rated on a 0 to 10 visual analogue scale (VAS) score at the point of needle insertion and injecting solutions. RESULTS: There was no statistical difference among each solution in VAS score. However, the VAS scores of drug administration were higher than those of needle insertion in all diluting solutions (P<0.05). CONCLUSIONS: There was no difference in the intensity of pain of an intramuscular injection of bupivacaine between four different kinds of solutions. However, it might be suggested that more effort and investigation will be needed to reduce pain with an intramuscular injection.
Bupivacaine* ; Healthy Volunteers ; Injections, Intramuscular* ; Needles ; Superficial Back Muscles ; Water

Extraskeletal osteosarcoma (ESOS) is a very rare malignant tumor of mesenchymal origin. It is rarer than osseous osteosarcoma and there are very few reports of the skin being a primary site. Most reported cutaneous ESOS were accompanied with metastasis in other organs. A 56-year-old man presented with a painful, 1.5x0.8 cm sized, brown-colored nodule on the right girdle area for 3 months. The histologic findings revealed a tumor that was confined to the dermis without connection to the subcutaneous tissue. In addition, there were large amounts of thin and lace-like bony trabeculae and osteoid with neoplastic cells in a highly pleomorphic sarcomatous stroma.
Cicatrix ; Dermis ; Humans ; Middle Aged ; Neoplasm Metastasis ; Osteosarcoma ; Skin ; Subcutaneous Tissue ; Transplants

BACKGROUND: Herpes zoster is a commom dermatologic disease characterized by acute unilateral neuritis, vesicular eruption and a persistent pain after the rash has healed- a complication known as postherpetic neuralgia. Recently, the incidence of herpes zoster seems to be increased due to various factors. OBJECTIVE: The purpose of this study was to investigate the change of the epidemiological and clinical characteristics, starting on the first day of antiviral therapy, and the incidence rate of postherpetic neuralgia. METHODS: During the 5 years from January 2002 to December 2006, 177 patients (Group A) with herpes zoster were assessed with age, sex, dermatomal distribution, starting day of antiviral therapy and postherpetic neuralgia. The data was compared with the historical control group of a previous study (1995~1999, Group B). RESULTS: There was no statistical difference between the two groups in clinical characteristics. Thoracic dermatome involvement was most common in both groups. But the incidence of trigeminal involvement was higher in group A than group B (p=0.040). Based on the starting day of antiviral therapy, the percentage of 3rd day group is higher than other groups. In group A, the percentage of 2nd, 3rd, 4th day group was increased and mean starting day was faster than group B (p=0.043). The prevalence of postherpetic neuralgia was decreased from group B to group A. In group A, incidence of postherpetic neuralgia according to age or delaying therapy increases (p=0.001). But, sex, underlying disease and dermatomal distribution were not predictor of postherpetic neuralgia. CONCLUSION: In group A, the starting day of antiviral therapy shows a tendency to be shortened, and the incidence of postherpetic neuralgia had decreased.
Exanthema ; Herpes Zoster ; Humans ; Incidence ; Neuralgia, Postherpetic ; Neuritis ; Prevalence

BACKGROUND: There are many differences in the prevalence of syphilis according to the objects and districts. Recently, the incidence of syphilis increased in the world because of various factors. OBJECTIVE: The purpose of this study is to investigate the changes of the epidemiological, clinical characteristics, and stages of syphilis. METHODS: We selected 357 patients with reactive results on VDRL among 79,991 cases who visited in our hospital, between January 2002 and December 2007. We assessed the age, gender, skin lesion, serologic result, clinical stage, treatment history, and underlying disease. RESULTS: During the 7-year period under study, the reactive rate of serum VDRL test was 4.5% in 79,991 people (preoperation or admission examinees: 35.0%. physical examinees: 30.8%, skin lesion: 21.3%, partner's (+): 9.0%, pregnant women: 3.7%). The annual incidence of syphilis had increased from 3.5% in 2002 to 6.3% in 2007. On a total 357 sera with reactive results on VDRL, the symptomatic syphilis rate was 21.3%, increased from 13.6% in 2002 to 26.8% in 2007 (p=0.001). Statistically, there are differences in age distribution between both sexes. The male:female ratio was 1:3.3 in 0~19 years and 1.9:1 in 60~69 years (p=0.029). The incidence of symptomatic syphilis cases was 8 (66.7%) in 0~19 years, 22 (39.3%) in 20~29 years, while latent syphilis was 53 (74.6%) in 50~59 years and 35 (60.3%) in 60~69 years (p<0.001). CONCLUSION: This study suggests that the incidence of symptomatic syphilis may be increasing. Further observation, analysis, and continued vigilance in the general population are required.
Age Distribution ; Humans ; Incidence ; Prevalence ; Skin ; Syphilis ; Syphilis, Latent

BACKGROUND: A collagenoma or connective tissue nevus of the collagen type is a hamartoma consisting predominantly of collagen. Collagenomas are divided into the inherited and acquired types. The acquired forms include eruptive and isolated collagenoma. However, few studies have assessed the characteristics of patients with acquired collagenoma. OBJECTIVE: The aim of this study was to analyze the clinical characteristics of patients with acquired collagenoma. METHODS: We reviewed the medical records and clinical photographs of 23 patients who had been diagnosed histopathologically with acquired collagenoma by biopsy during the last 12 years, from January 2002 to December 2013. In addition, 11 cases of eruptive or isolated collagenomas previously reported in the Korean literature were added. RESULTS: In total, 34 cases of acquired collagenoma were assessed. Of the 34 cases, 53% were men and 47% were women. The mean age at diagnosis was 20.0 years for the patients with eruptive collagenoma and 29.1 years for the patients with isolated collagenoma. In the cases of eruptive collagenoma, multiple, flesh-colored or whitish papules on the trunk were predominant. On the other hand, in the cases of isolated collagenoma, solitary, flesh-colored plaques on the palms or soles were common features. Collagenomas in most cases were asymptomatic (79.4%). However, some patients with collagenomas had other symptoms such as tenderness or pruritus. There was no traumatic history in any case. CONCLUSION: Our study showed that the clinical features of patients with acquired collagenoma share many similarities with those in previously reported studies, with some differences. This study is expected to help us understand and obtain more information on the clinical diagnosis of acquired collagenoma.
Biopsy ; Collagen ; Collagen Type I ; Connective Tissue ; Diagnosis ; Female ; Hamartoma ; Hand ; Humans ; Male ; Medical Records ; Nevus ; Pruritus

BACKGROUND: Epidermal cyst is a common acquired skin cyst. When such cysts may be inflamed, they are often referred to as being infected. To clarify the etiology of inflamed epidermal cysts, several studies have carried bacteriology of inflamed and uninflamed epidermal cyst and sought to identify the role of micro-organisms. OBJECTIVE: The aim of this study is to evaluate the bacterial influences on inflammatory process of epidermal cysts and the antibiotic sensitivity of cultured aerobic bacteria in epidermal cysts. METHODS: We carried out the bacterial cultures using sterile swabbing internal materials in each cyst which has been incised after surgical removals of epidermal cyst. An inflamed epidermal cyst was defined as a known cyst that developed a fluctuant soft-tissue swelling surrounded by the erythema and contained a localized collection of purulent material. For the aerobic culture, samples were cultured on blood agar plates, McConkey agar plate and chocolate agar plates in 5% CO2 at 35degrees C for 5 days. Colonies formed were identified based on VITEK2 system. Then antimicrobial susceptibility test were also done on VITEK2 system. RESULTS: Total of 100 epidermal cyst specimens from 96 patients (67 men and 29 women) were involved had confirmed histopathological findings by dermatologists. Seventy were from face and neck, 24 from trunk, 4 from the extremities, 2 from buttock. Of the 53 inflamed cysts, 30 (56.6%) yielded bacterial growth. On the other hand, from the 47 uninflamed cysts, 15 (31.9%) cyst resulted in bacterial growth (p=0.013). The predominant bacteria from inflamed and uninflamed cyst were coagulase-negative Staphylococci (32 isolate of 45 specimens, 71.1%). All cultured bacteria were susceptible to almost all of antibiotics except amoxicillin/clavulanic acid, ampicillin, benzylpenicillin, cefoxitin, cephalothin, fucidic acid, piperacillin, piperacillin/Tazobactam. CONCLUSION: Our study showed that CoNS was predominant in inflamed cysts, which strongly suggests that aerobic bacteria play a role in the inflammatory process and treatment with antibiotics is necessary for epidermal cyst.
Agar ; Ampicillin ; Anti-Bacterial Agents ; Bacteria ; Bacteria, Aerobic ; Bacteriology ; Buttocks ; Cacao ; Cefoxitin ; Cephalothin ; Epidermal Cyst ; Erythema ; Extremities ; Hand ; Humans ; Male ; Neck ; Penicillin G ; Piperacillin ; Skin

Hand-foot-mouth disease (HFMD) is an infectious viral disease that is common among children. It is clinically characterized by vesicular eruptions on the palms and soles and a maculopapular rash. Onychomadesis is a periodic idiopathic shedding of the nails at their proximal ends and results from arrest of the proliferative function of the nail matrix. Recently, a few reports described onychomadesis following HFMD, although the mechanism remains unclear. To our knowledge, this association has not been reported in Korea. Herein, we report two cases of onychomadesis following HFMD and review the published data.
Child ; Exanthema ; Humans ; Korea ; Virus Diseases

Hyperemesis gravidarum is characterized by severe nausea, vomiting followed by weight loss, dehydration, electrolyte imbalance and acid-base derangements. Its treatment was composed of adequate fluid therapy, electrolyte replacement and nutrient supply. In severe case, it also leads to a variety of neurological symptoms including confusion, gait disturbance and nystagmus, possibly due to thiamine deficiency and may result in so called Wernicke's disease. We have experienced a case of Wernicke's encephalopathy associated with severe hyperemesis gravidarum and this case is presented with a brief review of literature.
Dehydration ; Female ; Fluid Therapy ; Gait ; Hyperemesis Gravidarum* ; Nausea ; Pregnancy ; Thiamine Deficiency ; Vomiting ; Weight Loss ; Wernicke Encephalopathy*