No abstract available.
Lip ; Nevus, Blue

Holoprosencephaly, a grave malformation during cleavage phase of brain development, occurs in association with a variety of clinical syndrome including chromosomal aberration. Among chromosomal anomalies trisomy syndromes, particularly trisomy 18, are often associated with holoprosencephaly. Triploidy with holoprosencephaly had also been described. We report an autopsy case of incomplete triploidy with abnormal sex chromosome, i.e., 63, XXY. Our case showed a marked intrauterine growth retardation, and postmortem examination revealed alobar holoprosencephaly, hypotelorism, bilateral cleft palates and lips, flat nose, microstomia, lowset ears, congenital heart disease and cystic kidney. The brain was microcephalic 5 x 6 cm and was of pancake shape. there was a large dorsal cyst. Olfactory tracts and bulbs were absent. The brain surface was smooth, and only suggestive hippocampal fissure was noted. The basal ganglia and thalami were fused in midline and the aqueductal origin was exposed. The brain stem and cerebellum were unremarkable. Repeated karyotypings revealed 63,XXY consistently. All 21 chromosomes showed trisomy except for D group. The sex chromosome was XXY, and the genital tract and gonad were those of female.
Female ; Humans

Recently, the radionuclide angiocardiographic study had been enhanced by rapid development of gamma scintillation camera and computer system, and utilized as noninvasive diagnostic measurement of heart disease. We obtained the following results by the radionuclide angiocardiography with human serum albumin tagged with 99m-Technetium from two groups. One of them was congenital heart disease group(n=50, ventricular septal defect 20, atrial septal defect 6, pulmonary stenosis 2, tetralogy of Fallot 10, truncus arteriousus 1, transposition of great artery 1, patent ductus arteriosus 10) operated from Oct. 1984 to Jun. 1985, and the other was the normal human group(n=10) as control. 1) In the cases of left to right shunt, Qp/Qs values were calculated by th gamma variet fit curve. The preoperative values ranged from 1.441-3.00, the postoperative values were normal among all the patients except one(atrial septal defect, postop. Qp/Qs 2.335). 2) In the cases of right to left shunt, Qp/Qs values showed no apparent change between pre. andpostoperative period, possibly due to still remained collateral circulation and hardly obtained lower value(less than QP/QS 1.0) by computer system, But the double peak curve was noticed in the left ventricular time activity curve, which indicate right to left shunt, disappeared after the surgery, suggesting shunt closed. 3) The ejection fraction of left ventricle was obtained from the congential cardiac patients, ranged 0.38-0.65 before the surgery and 0.41-0.67 after the surgery. 4) The circulation time calculated from the first-pass radionuclide angiocardiography, ranged normal in the most congenital cardiac patients, but prolonged in the severe pulmonary hypertension.
Angiocardiography ; Arteries ; Collateral Circulation ; Computer Systems ; Ductus Arteriosus, Patent ; Gamma Cameras ; Heart Defects, Congenital* ; Heart Diseases ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Heart Ventricles ; Hemodynamics* ; Humans ; Hypertension, Pulmonary ; Pulmonary Valve Stenosis ; Serum Albumin ; Tetralogy of Fallot

No abstract available.
Paget Disease, Extramammary

Superficial angiomyxoma is a comparatively rare dermal and subcutaneous tumor. We report a case of superficial angiomyxoma of the thumb in view of its rarity and typical light and electronmicroscopic features. The patient was a 46-year-old male. who presented with an asymptomatic, slowly enlarging mass that developed in the left thumb over the 5 years. He had a history of trauma and electric burn in the same area 20~30 years ago. Simple X-ray and magnetic resonance imaging revealed 35x30mm, mass with destruction of distal phalangeal bone. On operation, the lesion was moderately well circumscribed and soft with lobulated nodules that elevated the overlying skin and destroyed the underlying bone. The cut surface of the mass was glistening and slimy. The mass was whitish gray and lobulated. Bony involvement was not present. Microscopically, the tumor was composed of stellated and spindle shaped stromal cells which were scattered throughout myxoid ground substance. Neither nuclear hyperchromasia nor plemorphisam was present. Small to medium sized thin walled blood vessels were scattered. There was a scanty infiltrate of inflammatory cells. The S-100 protein immunostaining was negative in tumor cells. On electron microscopy, the cytoplasm of the stromal cells contained well developed rough ednoplasmic reticulums and other features that indicated differentiation toward fibroblasts.

Malignant peripheral nerve sheath tumor (MPNST) is a rare entity of all soft tissue sarcomas. It has four different types of glandular, melanocytic, rhabdomyoblastic, and epithelioid. Epithelioid MPNST is composed of predominantly epithelioid cells. In contrast, typical MPNST is consisted of spindle cells, which is arranged in a fascicular or whirling pattern. A 33-old man showed two skin-color to reddish brown protruding nodules on the left thigh. Microscopically, one nodule was made up of epithelioid cell, primarily. In addition, the other nodule was composed of epithelioid cells and spindle cells, which also showed Antoni A and B. Immunohistochemical study showed the cells being positive for S-100 protein (weak and focal) and neuron-specific enolase, and negative for HMB-45, smooth muscle actin. Herein, we report a case of two different forms of malignant nerve sheath tumor on the left thigh, which was not associated with neurofibromatosis-1.
Actins ; Epithelioid Cells ; Muscle, Smooth ; Nerve Sheath Neoplasms ; Neurilemmoma ; Neurofibromatoses ; Peripheral Nerves ; Phosphopyruvate Hydratase ; Prognosis ; S100 Proteins ; Sarcoma ; Thigh

No abstract available.
Anemia, Hemolytic* ; Humans ; Infant, Newborn ; Infant, Premature* ; Vitamin E* ; Vitamins*

Pure, nongestational ovarian choriocarcinomas is extremely rare. Most ovarian choriocarcinoma are combined with other malignant germ cell tumors or can arise as a metastaais from a primnry gestational choriocarcinoma. We experienced a case of primary ovarian choriocarcinoma that probably was associated with a past history of the mixture of germ cell tumor and present it with a review of literature.
Choriocarcinoma* ; Female ; Neoplasms, Germ Cell and Embryonal ; Pregnancy

No abstract available.
Female* ; Humans ; Krukenberg Tumor*

Mitochondrial myopathy is characterized by variable clinical manifestations from mild limb weakness to fatal respiratory failure and central nervous system sequela. But it is a rare event that sleep disordered breathing become a clue of diagnosis for mitochondrial myopathy. We report a case of a 21 year-old man who was diagnosed as mitochondrial myopathy during the investigation for the possible cause of chronic hypoventilation syndrome. Before being admitted to our hospital, he was suspected as having sleep apnea syndrome in another hospital. We re-evaluated the history, physical examination, laboratoy findings and polysomnography in detail. Severe hypoxemia was noted during REM sleep on nocturnal polysomnography and the diagnosis of mitochondrial myopathy was made by muscle biopsy in rectus abdominis muscle. We treated him with bilevel positive airway pressure therapy during sleep and it could reverse the hypoxemia during REM sleep. He could be discharged with improved condition and is being well with the use of this ventilatory assistance.
Anoxia* ; Biopsy ; Central Nervous System ; Diagnosis ; Extremities ; Humans ; Hypoventilation ; Mitochondrial Myopathies* ; Physical Examination ; Polysomnography ; Rectus Abdominis ; Respiratory Insufficiency ; Sleep Apnea Syndromes ; Sleep, REM* ; Young Adult