We report an autopsy case of the brain stem glioma that extended extensively in the brain stem itself and cephalad. This 18-year-old boy first presented with dizziness, vomiting and left side weakness with left facial palsy. Brain MRI revealed a diffusely infiltrative tumor involving whole medulla, pons and lower midbrain. A total of 4000 R was given with some alleviation of respiratory difficulty. He died one year after the onset. Autopsy revealed the tumor involving pons, a portion of medulla oblongata, and cerebellum. The tumor showed diffusely infiltrative pattern and extended along the periventricular area to the thalamus and corpus callosum. The cut surface was grayish white and solid. It also showed areas of myxoid degeneration and necrosis probably related to radiation therapy. Microscopically the tumor was a cellular and pleomorphic glioma that showed some astrocytic differentiation. It was diffuse without geographic necrosis.

Sex typing may become the start point in investigations that are usually performed through amelogenin typing. In cases involving genotype-phenotype discrepancy, amelogenin typing could yield misleading results. The rare XX male syndrome is characterized by a phenotypic male with a 46, XX female karyotype. In this point, this case report would help understand the importance of genotype-phenotype discrepancy.
Amelogenin ; Female ; Genes, sry ; Humans ; Karyotype ; Klinefelter Syndrome ; Male ; Y Chromosome

In order to determine paternity by genetic testing, the Paternity Index (PI) and probability of paternity are calculated using likelihood ratio method. However, when it is necessary, additional testing can be performed to validate the genetic relationship. This research demonstrates autosomal short tandem repeat (STR) results of Jeju Island population in order to determine genetic relationship. Two notable cases showed that despite the acceptable PI value obtained from STR testing, average of 12 mismatches were found in total of 169 autosomal single nucleotide polymorphism typing. Such cases imply that cautious statistical approach is necessary when determining genetic relationship, especially within an isolated population group. Moreover, this would suggest that a further research and investigation are needed in order to understand the population structure of Korea.
Genetic Testing ; Humans ; Korea ; Microsatellite Repeats ; Oligonucleotide Array Sequence Analysis ; Paternity* ; Polymorphism, Single Nucleotide ; Population Groups

In a series of 289 patients who underwent stereotactic evacuation of spontaneous intracerebral hematoma(ICH) located in the supratentorial hemisphere from January 1990 through December 1994, the 30th day postoperative outcomes were analysed between small ICH group and large ICH group according to the initial Glasgow Coma Scale(GCS) scores. There were no significant differences found in the postoperative outcome between both groups(p=0.26), except for the finding that the small ICH group showed a better GCS score of less than 8(p=0.04) than large ICH group. In conclusion, it is suggested from these findings that stereotactic evacuation should be more readily employed for large ICH group as well as for small ICH group.
Coma ; Hematoma* ; Humans

The authors analyzed 53 cases with spontaneous intracerebellar hemorrhage diagnosed by brain CT scan and assessed the correlation between the mental status at admission, the outcome and the CT findings. The location of hematoma, volume of hematoma, quadrigeminal cistern obliteration, intraventricular hemorrhage and hydrocephalus were correlated to the mental status assessed by GCS at admission. The GCS score at admission, location of hematoma, volume of hematoma, quadrigeminal cistern obliteration, intraventricular hemorrhage and hydrocephalus were correlated to the outcome. We conclude that decreased GCS score at admission, large volume of hematoma, quadrigeminal cistern obliteration, presence of intraventricular hemorrhage and hydrocephalus could be considered as surgical indications and contributing factors for poor prognosis in the patients with spontaneous intracerebellar hemorrhage.
Brain ; Hematoma ; Hemorrhage* ; Humans ; Hydrocephalus ; Prognosis* ; Tomography, X-Ray Computed

The authors report a case of monostotic eosinophilic granuloma which occured in the skull. A 37 year-old woman was presented with headache and soft mass in the occipital region. Plain skull X-ray showed a "punched out" osteolytic lesion in the right paramedian posterior parietal bone. Computed tomography shows a soft tissue mass and irregular bone destruction in corresponding region. On magnetic resonance image, the mass was of high signal intensity, with subgaleal extension and looks like a shirt stud or "collar button" on T2-weighted image. Total excision of the tumor and postoperative radiotherapy(1000cGy) were performed. The woman had no headache complains nor showed any focal neurologic deficit during the six months follow-up period. We report a case of monostotic eosinophilic granuloma of the skull with review of the pertinent literatures.
Adult ; Eosinophilic Granuloma* ; Eosinophils* ; Female ; Follow-Up Studies ; Headache ; Humans ; Neurologic Manifestations ; Parietal Bone ; Skull*

The auther studied 54 lumbar spondylolisthesis patients diagnosed and treated with transpedicular screw fixation and bony fusion at our Hosptial between January 1990 and December 1994, and analysed the outcome. The results may be summarized as follows: 1) Of the 54 cases, 17 were degenerative spondylolisthesis and 37 were spondylolytic spondylolisthesis. Occurrence peaked during the fifth and sixth decades. 2) Posterolateral fusion(P.L.F) was performed in 37 cases and posterior lumbar interbody fusion(P.L.I.F) in eight ; P.L.F and P.L.I.F in combination was performed in nine cases. The mean follow-up period was 25 months. 3) In no patients was significant neurologic injury or functional root loss seen. Complications included two instrument failures and one wound infection. 4) Radiologic and clinical outcome was better in degenerative than in spondylolitic spondylolisthesis. 5) The radiologic and clinical outcome of bony fusion types P.L.F and P.L.I.F was the same. 6) The surgical result as evaluated by Mc.Nab's criteria was satisfactory in 81% of patients.
Follow-Up Studies ; Humans ; Spine* ; Spondylolisthesis* ; Wound Infection

Recently, it has been reported that transfused patients can generate admixture-like genetic profiles. As genetic material of the donor can survive for a reasonable time after transfusion, the recipient's genomic DNA is likely to have a mixture pattern. An autopsy case of a man transfused perimortem generated a mixture patterned short tandem repeat profile. Notably, the patient was transfused mostly with nuclear-deficient cells, limiting the donor genetic material available for the recipient. As a result, mixture-like patterns were observed consistently, regardless of change in input DNA content; the sample DNA content, which was serially diluted, ranged from 1 ng to 0.0625 ng. The distributions of foreign peaks appeared to be irreproducible, showing stochastic behaviors throughout the genotyped results. This study suggests that a cautious approach is required when genotyping of a patient who has undergone recent transfusion. One must consider the possibility of obtaining a mixture patterned profile in such patients, and therefore, choose parenchymal organs or tissues for reliable results.
Autopsy ; Blood Transfusion ; DNA ; DNA Fingerprinting ; Humans ; Microsatellite Repeats* ; Tissue Donors

Serum or plasma is free of cellular components. As DNA is in the nucleus or mitochondria of a cell, it can be presumed that serum/plasma is DNA free. However, there are cases wherein serum/plasma is the only resource available for identification analysis, yet no sufficient data are available regarding whether reliable DNA testing can be applied to such cases, and what the influencing factors are when testing is a valid course of action. The aim of this study is to illustrate the factors that can be used in the genetic testing of serum/plasma when identifying an individual. The results showed that the concentration of serum DNA significantly increased over time in 4℃ storage, and the DNA yields from samples stored in heparin tubes were overall higher than from samples stored in ethylenediaminetetraacetic acid tubes. We observed that the concentration of DNA in serum successfully matched 100% to the short tandem repeat data of blood DNA.
DNA Fingerprinting ; DNA* ; Edetic Acid ; Genetic Testing ; Heparin ; Humans ; Microsatellite Repeats ; Mitochondria ; Plasma*

The declining tendency of signal joint T-cell receptor excision circles (sjTRECs) in peripheral blood is known to be age-dependent, and their quantification in blood or bloodstains has recently been introduced as a tool for age estimation. Lymphoid tissues such as the thymus and spleen represent potential candidates for age estimation because they undergo age-related structural and functional changes. In the present study, the correlation between age and sjTREC levels in human lymphoid tissues, namely the thymus, spleen, and blood, obtained from autopsy cases were investigated, with the goal of establishing a reliable age estimation model. Results showed negative regression curves with coefficient values of r=-0.410, r=-0.611, and r=-0.584 for thymus, spleen, and blood, respectively. In addition, this model was testing using thymus samples from the torsos of dismembered bodies from two real forensic cases, and results showed the predicted ages to be close to the actual ages of the victims. Further study will be required to improve accuracy and reduce estimation error, particularly within the lower age range. Nonetheless, these results suggest that quantification of sjTRECs in not only blood but also in other lymphoid tissues could be a useful tool for age estimation in forensic cases.
Autopsy ; Humans* ; Joints* ; Lymphoid Tissue* ; Receptors, Antigen, T-Cell* ; Spleen ; T-Lymphocytes* ; Thymus Gland ; Torso