Adolescent ; Diseases in Twins ; Female ; Humans ; Hyperthyroidism ; Pregnancy ; Twins, Monozygotic

Pleomorphic xanthoastrocytoma is a rare tumor, presenting superficially over the cerebral hemispheres of young subjects. We report a case of Pleomorphic xanthoastrocytoma of the cervical cord in view of its unusual location. The patient is a 20-year-old female, presenting with left neck pain radiating to the left shoulder one month before the admission. Magnetic resonance imaging revealed a high signal lesion in the upper cervical cord lower brainstem in T2 weighted image. On operation, intramedullary tumor was present and it was relatively well delineated. Near-total removal of the spinal cord mass was done. Microscopically, the tumor was composed of pleomorphic astrocytes, which were spindle-shaped with cytoplasmic processes and hyperchromatic nuclei. Other cells were round with vesicular nuclei and abundant eosinophilic cytoplasm. A few giant cells were seen. Despite the marked pleomorphism, mitosis or necrosis was not encountered. Scattered foamy cells were also seen, which showed negative staining in GFAP immunostaining in contrast to other GFAP-positive tumors cells.
Female ; Humans

An intraparotid benign lymphoepithelial cyst is a rare disease characterized by unilateral painless swelling of parotid region. The histogenesis is controversial. Surgical excision is recommended for diagnosis and curative treatment. We present a case of benign lymphoepithelial cyst arising in a patient with neurofibromatosis. A 46-year-old woman presented with a slowly growing multilocular cystic mass in the left cheek. The cystic mass measured 4 cm in maximal outer diameter and the cystic wall was thick and yellowish pale to gray, soft with well circumscribed margin. Microscopically, the multilocular cyst was lined by stratified squamous epithelium for the most part and underlying lymphoid tissue aggregates with follicles and sharply demarcated from adjacent salivary parenchyma which is of normal appearance and without lymphoid aggregates. Since this lesion is absolutely benign, it is important to separate this benign cyst from cystic salivary gland tumors.
Female ; Humans ; Cysts

Cysts of the iris may be primary lesions of either epithelial or stromal in origin, or secondary lesions after trauma or surgery. The stromal cyst is usually of primary lesion, although it could be secondary as shown in our case. We report a case of recurrent iris cyst after trauma. The patient was an 8-year-old girl. She had a penetrating injury of the involved eye three years ago. She had a similar iris cyst removed two years before this surgery. Histologically, the cyst was lined by non-keratinizing stratified squamous epithelia and subjacent fibrovascular tissue. Islands of melanin-containing epithelial cells and acellular basophilic degenerating materials were also seen in the lesion. This case represents a stromal epithelial cyst that by history appears to be of post-traumatic etiology.
Cysts

Partial trisomy of the long arm of chromosome 5 distal to 5q33 is rare. Only 16 cases have so far been reported. We report on a three-year-old boy with microcephaly, growth and developmental delay, mild mental retardation, and facial dysmorphism caused by partial 5q trisomy and partial 7p monosomy. The patient has an apparently unbalanced translocation resulting from a rearrangement between chromosomes 5 and 7 (46,XY,der (7)t (5;7) (q33;p22)de novo). Fluorescence in situ hybridization with chromosome 5 and 7 painting probes and a cri-du-chat critical region probe confirmed this chromosome rearrangement. Most cases of partial trisomy 5q33-q35 described to date are due to the unbalanced transmission of a familial translocation. To the best of our knowledge, there are no previous reports of de novo unbalanced translocations of these two chromosome abnormalities together with similar breakpoints.
Arm ; Chromosome Aberrations ; Chromosome Deletion* ; Chromosomes, Human, Pair 5 ; Fluorescence ; Growth and Development ; Humans ; In Situ Hybridization ; Intellectual Disability ; Male ; Microcephaly ; Monosomy ; Paint ; Paintings ; Trisomy*

An autopsy case of holoacardius hemisomus acephalus is reported. She weighed 2,190 gm and the height was 38 cm. The head and upper extremities were absent, while the vertebrae and lower extremities were relatively well developed, but severely edematous. The heart, lungs, stomach, liver, spleen, and pancreas were missing, but the lower abdominal organs including kidneys, adrenal, urinary bladder, and genital organs were present. The intestine was blind-ended at jejunal level but opened into a normal anus. The umbilical cord had two arteries and one vein.

Prenatal chromosome analysis of amniotic cells at 18 weeks of gestation showed a male fetus to carry a large 15p+ derivative chromosome inherited from his mother. Extra genetic material on the short arm of chromosome IS was silver-negative with Ag-NOR (nucleolus organizer regions) stain, but stained darkly with C-banding method like the distal heterochromatic segment of the Y long arm. Fluorescence in situ hybridization (FISH) using two DNA probes (DYZ1 and D15Zl) showed a red fluorescent signal on 15p+ In addition to a green chromosome 15 centromere signal, confirming 15p to be from the distal Yq heterochromatin.
Arm ; Centromere ; Chromosomes, Human, Pair 15 ; DNA Probes ; Fetus ; Fluorescence ; Heterochromatin ; Humans ; In Situ Hybridization ; Male ; Mothers ; Pregnancy

PURPOSE: The purpose of this study was to describe the clinical outcome after pancreatcetmy and its relationship with pathological appearances and clinical features in patients with persistent hyperinsulinemic hypoglycemia of infancy(PHHI). METHODS: Medical records of 10 patients(9 males and 1 female, mean age:40.4+/-1.5 months) who were diagnosed as PHHI and underwent pancreatectomy from 1988 to 2000 were reviewed. Clincal and biochemical data were recorded. Subjects were classified arbitrarily into early-onset or late-onset group according to age of onset. Pathologic appearance of pancreas was divided into 2 forms:diffuse or focal. The former had a focal pancreatic adenomatous hyperplasia and the latter was characterized by increased number of betacells with similar distribution seen in normal neonates. RESULTS: One patient had focal, and nine had diffuse lesions. After near-total pancreatectomy, 4 patients(40.0%) showed complete response, 4(40.0%) had persistent hypoglycemia, and 2(20.0%) developed diabetes mellitus. As neurological sequelae, 6 patients(60.0%) had persistent seizures, and 6(60.0%) had delayed motor and speech development. No clinical or biochemical factors related to postoperative outcome were found. CONCLUSION: This data indicate that early diagnosis of patients who present with hypoglycemic symptoms in infancy, especially early in life, and development of more effective therapy are warranted, because there is no clinical or biochemical factor predicting final outcome after near-total pancreatectomy and only 40% of patients with PHHI remained euglycemic after surgery with possible severe neurological sequelae.
Age of Onset ; Congenital Hyperinsulinism* ; Diabetes Mellitus ; Early Diagnosis ; Female ; Humans ; Hyperplasia ; Hypoglycemia ; Infant, Newborn ; Male ; Medical Records ; Pancreas ; Pancreatectomy* ; Seizures

In order to elucidate the biological effects of pulsating magnetic field in in vitro culture system we designed a pulsating magnetic apparatus using 120 Hertz, 24 Volt direct current. It can generate 63~225 Gauss in the experimental area of 90 mm petri dish, and has little thermal effect on the culture media in 37.5oC, 5% CO2. Human osteogenic sarcoma (HOS) cells were cultured in the pulsating magnetic field and the nuclear changes of cultured cells were observed routinely by hematoxylin staining, and apoptotic change was detected by ApopTag staining using both peroxidase and fluorescein labelings. Compared to the control group which formed well organized whorling pattern of HOS cell line in 3 days culture, the HOS cells cultured in the pulsating magnetic field for 12 hours or 24 hours grew irregularly and showed increased number of apoptotic cells. When the flow of pulsating magnetic field was interrupted by insertion of strong permanent magnetic bar (1000 Gauss, 5530 mm) beneath the petri dish during in vitro culture, the area of sparse pulsating magnetic field showed active proliferation and aggregation of HOS cells even in 24 hour exposure group. These data suggest that the pulsating magnetic field may play a role in inducing growth retardation and apoptosis of HOS cells. Furthermore, the hazardous effects of pulsating magnetic field can be lessened or nullified by the interruption of pulsating magnetic field with a strong permanent magnetic bar.
Apoptosis ; Cell Line* ; Cells, Cultured ; Culture Media ; Fluorescein ; Hematoxylin ; Humans* ; Magnetic Fields* ; Osteosarcoma* ; Peroxidase

Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis.The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this syndrome. We report on an infant with Nager acrofacial dysostosis that was associated with 45,X monosomy. This baby was born to a 36-year-old multigravid woman after 37 weeks of gestation and with maternal hydramnios. The baby girl died of airway obstruction due to retruded tongue 3 hours after birth. Phenotypically, this this patient had mandibulofacial dysostosis, radioulnar synostosis, hypoplasia and aplasia of thumbs, peripheral edema and apparently normal genital organs. We confirmed that major chromosomal anomaly including 45,X monosomy could be associated with Nager syndrome, although its pathogenetic significance remains unanswered.
Adult ; Airway Obstruction ; Dysostoses ; Edema ; Extremities ; Female ; Genitalia ; Humans ; Infant ; Mandibulofacial Dysostosis ; Monosomy* ; Parturition ; Polyhydramnios ; Pregnancy ; Synostosis ; Thumb ; Tongue ; Wills