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

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*

Incontinentia pigmenti (Bloch-Sulzberger's disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manifestation in normal karyotype (46, XY) male infant.
Humans ; Incontinentia Pigmenti ; Infant ; Karyotype ; Male ; Mosaicism ; Skin Manifestations ; X Chromosome

Juvenile xanthogranuloma (JXG) is a fibrohistiocytic proliferative disorder predominant in infancy and childhood. It is a benign and transient skin lesion that usually appears in the cephalic area. Recently, the concurrent finding of neurofibromatosis (NF), juvenile chronic myelogenous leukemia (JCML), and JXG has been repeatedly reported. Especially, the family history of NF may represent a risk factor for the development of JCML in patients with NF and in patients with NF and JXG. So, a finding of JXG and NF in infants should alert the physician to a possible development of JCML. We report a case of JXG developed in a neurofibromatosis child with family history.
Child ; Humans ; Infant ; Leukemia, Myelomonocytic, Juvenile ; Neurofibromatoses ; Risk Factors ; Skin ; Xanthogranuloma, Juvenile

Frontotemporal dementia as subtype of Frontotemporal lobe dementia is a neurological disorder characterized by personality changes, deteriaoration of memory and executive functions as well as stereotypical behaviour. Parkinsonism was sometimes associated with other degenerative disease, such as Alzheimer disease. However, Parkinsonism accompanied with frontotemoporal lobe dementia had hardly been described. We report a 68 year-old man with pakinsonian symptoms associated with frontotemporal dementia. He complainted personality change, other cognitive disorder with sparing memory function, bradykinesia, postural instability, stooped posture, and gait disturbance.
Aged ; Alzheimer Disease ; Dementia ; Executive Function ; Frontotemporal Dementia* ; Gait ; Humans ; Hypokinesia ; Memory ; Nervous System Diseases ; Parkinsonian Disorders* ; Posture

Inhibitory motor seizure or ictal hemiparesis is very infrequent seizure type and sometimes difficult to differentiate from acute cerebrovascular disease. We report two patients with hemiparesis as manifestation of status epilepticus. One patient showed epileptic discharge on midline frontocentral region by EEG-Video monitoring, another patient showed continuous slowing wave associated with hyperperfusion findings of brain SPECT on left fronto-temporo-parietal region. Both patients showed normal brain imaging.
Brain ; Humans ; Neuroimaging ; Paresis* ; Seizures ; Status Epilepticus* ; Tomography, Emission-Computed, Single-Photon

BACKGROUND: Ear piercing is widely and easily practiced by medical personnel as well as nonmedical personnel, but it has been associated with many complications. Epidermal cyst may develop after ear piercing and result in permanent deformity of ear. However, there have been few studies to investigate the complications of ear piercing, and especially epidermal cyst. OBJECTIVE: We wanted to evaluate the epidemiology of epidermal cyst that developed due to ear piercing. METHODS: A written questionnaire was distributed to 236 students at Chosun University. It consisted of 17 items concerning the overall evaluation of the complications of ear piercing, the treatments for the complications and the epidemiology of epidermal cyst after ear piercing. RESULTS: Of 236 students included in the survey, 132 students (56%) already had pierced ears. Among them, 80 students (60.6%) experienced one or more complications such as contact dermatitis (41.5%), infection (39.2%), cyst formation (13.7%) and bleeding (5.9%). In 14 students who experienced epidermal cyst after ear piercing, the ratio of male to female patients was 1:3.7 and the mean age when they first underwent ear piercing was 18.7 years. An asymptomatic cystic mass was the most common clinical symptom. Half of them received medical treatment such as dressing (50%), medication (25%), drainage (12.5%) and a surgical procedure (12.5%). CONCLUSION: Our data indicates that ear piercing is not easy and simple, but rather, it is a dangerous procedure due to its frequent complications. Therefore, dermatologists should warn patients about the complications of ear piercing and play a major role to prevent them.
Bandages ; Body Piercing ; Congenital Abnormalities ; Dermatitis, Contact ; Drainage ; Ear ; Epidermal Cyst ; Female ; Hemorrhage ; Humans ; Male ; Questionnaires