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

No abstract available.
Dantrolene ; Malignant Hyperthermia

Cutaneous metastasis of papillary thyroid carcinoma is very rare and is a marker for wide dissemination. A 62-year-old woman presented with an asymptomatic, solitary, bean sized bluish nodule on the right anterior neck. She noticed the lesion 2 years ago and the nodule had been steadily enlarging. Five years ago, she underwent fine needle aspiration biopsy, right lobectomy, and total thyroidectomy and was diagnosed with papillary thyroid carcinoma. Since then, she has received radioactive iodine treatment three times and gone through whole body PET-CT scan twice, which revealed nonspecific findings. A biopsy specimen showed a well demarcated nodule consisting of many tumor cells with multiple follicular structures in the dermis. Tumor cells had ground glass nuclei, nuclear pseudoinclusions and nuclear grooves, and stained positive for thyroid transcription factor-1 and thyroglobulin. Herein, we report a case of cutaneous metastasis of papillary thyroid carcinoma suspected of iatrogenic cause.
Biopsy ; Biopsy, Fine-Needle ; Carcinoma ; Dermis ; Female ; Glass ; Humans ; Iodine ; Middle Aged ; Neck ; Neoplasm Metastasis* ; Thyroglobulin ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroidectomy

The present study was performed to evaluate the effect of citric acid on the change of implant surface microstructure according to application time. Implants with pure titanium machined surface, titanium plasmasprayed surface, and sand-blasted, large grit, acid etched surface were utilized. Implant surface was rubbed with pH 1 citric acid for 1/2 min., 1 min., 1 1/2 min., 2 min., and 3min. respectively in the test group and implant surface was not treated in the control group. Then, the specimens were processed for scanning electron microscopic observation. The following results were obtained. 1. Both test and control group showed a few shallow grooves and ridges in pure titanium machined surface implants. There were not significant differences between two groups. 2. In titanium plasma-sprayed surfaces, round or amorphous particles were deposited irregularly. The irregularity of titanium plasma-sprayed surfaces conditioned with pH 1 citric acid was lessened and the cracks were increased relative to the application time of pH 1 citric acid. 3. Sand-blasted, large grit, acid etched surfaces showed the macro/micro double roughness. The application of pH 1 citric acid didn't change the characteristics of the sand-blasted, large grit, acid etched surfaces. In conclusion, the application of pH 1 citric acid to titanium plasma-sprayed surface is improper. And pure titanium machined surface implants and sand-blasted, large grit, acid etched surface implants can be treated with pH 1 citric acid for peri-implantitis treatment if the detoxification of these surfaces could be evaluated.
Citric Acid* ; Hydrogen-Ion Concentration ; Peri-Implantitis ; Titanium

Miliary osteoma cutis of the face is a variant of osteoma cutis, and this malady occurs in middle-aged to older women with or without a previous history of acne vulgaris. Case 1 is a 54-year-old woman who presented with asymptomatic, multiple, 2~3 mm-diameter, skin-colored, firm papules on both cheeks and she'd had these lesions for 10 years. Case 2 is a 61-year-old woman who showed the same type of skin lesions on both cheeks and temporal areas for 10 years. Histopathological examinations for the two cases revealed compact bone formation in the dermis. We report here on 2 rare cases of miliary osteoma cutis of the face.
Acne Vulgaris ; Bone Diseases, Metabolic ; Cheek ; Dermis ; Female ; Humans ; Middle Aged ; Ossification, Heterotopic ; Osteogenesis ; Osteoma ; Skin ; Skin Diseases, Genetic

Myasthenia gravis(MG) is an autoimmune disorder characterized by the presence of anti-acetylcholine receptor antibody and weakness of voluntary muscles. The pathogenesis of MG is decreased numbers of acetylcholine receptors at postsynaptic membranes of neuromuscular junctions. It has been reported that MG often coexists with other autoimmune disorders. This is a case report of systemic lupus erythematosus coexisting with MG in a 23 year old female patient presenting with dysarthria, dysphagia, and limb weakness. We report the case with relevant literature review.
Deglutition Disorders ; Dysarthria ; Extremities ; Female ; Humans ; Lupus Erythematosus, Systemic* ; Membranes ; Muscle, Skeletal ; Myasthenia Gravis* ; Neuromuscular Junction ; Receptors, Cholinergic ; Young Adult

Hemiballism is a rare hyperkinetic involuntary movement disorder that presents with unilateral forceful, flinging, large amplitude of proximal limbs. The most consistent neuropathological findings in hemiballism are a lesion of the contralateral subthalamic nucleus and pallidosubthalamic tract. However, we experienced a patient with pure hemiballism as isolated manifestation of acute ischemic stroke without other neurological abnormal symptoms such as chorea or dystonia. Brain magnetic resonance image showed acute ischemic stroke in right caudate nucleus but not subthalamic nucleus.
Brain ; Caudate Nucleus ; Chorea ; Dyskinesias* ; Dystonia ; Extremities ; Humans ; Infarction* ; Stroke ; Subthalamic Nucleus