PURPOSE: Pseudohypoparathyroidism(PHP) is caused by a defect of G protein and receptor despite of normal parathyroid hormone(PTH) secretion. It is a rare disorder characterized by hypocalcemia, hyperphophatemia, elevated PTH levels and albright hereditory osteodystrophy(AHO). We retrospectively reviewed the clinical characteristics of PHP. METHODS: We reviewed clinical features, laboratory findings, and outcome to treatment of 8 PHP patients, diagnosed at Seoul National University Hospital from 1988 to rool. RESULTS: Male to Female ratio was 1.7:1 and mean age at diagnosis was 11.8 years old. The initial average height SDS was 0.13+/-.08 and the average weight SDS was 0.43+/-.31. The most common symptom was seizure. Only one patient had typical AHO, three patients had mental retardation. Brain MRI or CT showed basal ganglia calcification in 3 patients. All patients treated with vitamin D and calcium supplementation could maintained normal serum levels of calcium and phophorus. CONCLUSION: PHP should be suspected in patient with seizure of unknown origin, aged above 5 year-old. AHO and mental retardation could be adjuvant signs to the diagnosis of PHP. But definite diagnosis could be made by laboratory work up.
Basal Ganglia ; Brain ; Calcium ; Child, Preschool ; Diagnosis ; Female ; GTP-Binding Proteins ; Humans ; Hypocalcemia ; Intellectual Disability ; Magnetic Resonance Imaging ; Male ; Pseudohypoparathyroidism* ; Retrospective Studies ; Seizures ; Seoul ; Vitamin D

The estimation of age is an important issue in forensic science, and the forensic community has attempted many times to establish methods for solving this issue. Aging leads to alterations in tissues and organs at the molecular level. These alterations at the molecular level may aid forensic scientists to estimate the age of a living person or a dead body. Initially, the focus was on the genetic components of aging, but recently, epigenetic mechanisms have emerged as the key contributors to the alterations in genome structure and function that accompany aging. In particular, DNA methylation is one of the best-understood mechanisms, and it has been suggested as a promising biomarker for age estimation in many studies. In this review, we summarize the recent studies on age-associated DNA methylation changes in different tissues and discuss its possible and practical applications in forensics.
Aging ; DNA ; DNA Methylation ; Epigenomics ; Forensic Sciences ; Genome ; Humans

Accessory auricle is a relatively rare congenital anomaly arised from the abnormaI development of the auricular tubercles or from the tissues surrounding the second, third and fourth branchial clefts. Clinically this anomaly is a small akin-colored tag or nodule, soft and globular or cartilaginous consistency on or near the tragus along a line drawn from the tragus to the angle of the mouth or along the anterior margin of the sternomastoid muscle. The lesion is usually solitary and located in the preauricular area but may be multiple and rarely bilateral. We present a typical caae of accessory auricles in 4-day-old female infant. The patient had two skin-colored firm nodules on the left preauricular area and well pedunculated one on the Ieft buccal area near the angle of the rnouth. Histopathologic find.ings showed numerous pilosebaceous units, abundant subcutaneous fat and cartilage tissue in the center of the lesion.
Branchial Region ; Cartilage ; Female ; Humans ; Infant ; Mouth ; Subcutaneous Fat

Responses of mouse lymphocytes to the soybean paste fermented by Korean traditional fashion was examined to clarify its effects in cytokine production in vitro. A fraction of the soybean paste (KFSP-100) was prepared by precipitation with ammonium sulfate and by filtration through ultrafiltration membrane. KFSP-100 were added into cultures of fresh mouse splenic cells in vitro. KFSP-100 significantly enhanced the amount of IL-6 and TNF-a produced by macrophages and IL-6 and IFN-r produced by lymphocytes. Production of IL-12 by macrophages was not much affected by KFSP-100 treatments. The most noticeable finding was the fact that lymphocytes treated with KFSP-100 proliferated to an exceeding numbers (more than 10 times to the control) in 72 hours. The KFSP-100-induced proliferative response was specific to B cells since almost all of the KFSP-100-induced cells in the cultures of splenic cells were B cells. Furthermore, such a proliferative responses were equally observed only in cultures of purified B cells but not in cultures of T cells. In thermostability test, the biologically active components of the KFSP-100 is assumed to be either linear protein or glycoprotein. KFSP-100 did not induce agglutination of lymphocytes demonstrated by lectins in the same cells. These observations suggest that KFSP-100 may be a novel mitogen for B lymphocytes. The component (s) responsible for the B cell proliferation in KFSP-100 might be a factor gained by natural fermentation. None of the fractions of not fermented soybean paste prepared by the same methods demonstrate the same effect.
Agglutination ; Ammonium Sulfate ; Animals ; B-Lymphocytes ; Cell Proliferation ; Fermentation ; Filtration ; Glycoproteins ; Immunologic Factors* ; Interleukin-12 ; Interleukin-6 ; Lectins ; Lymphocytes ; Macrophages ; Membranes ; Mice ; Soybeans* ; T-Lymphocytes ; Ultrafiltration

Paraneoplastic pemphigus is a distinct and rare autoimmune disease characterized by extensive and painful mucosal ulcerations and polymorphic desquamated skin lesions in the setting of an underlying neoplasm, typically of lymphoreticular origin. Thus difficulties in the management of anesthesia can be expected. A 66-years-old man was scheduled for removal of intraabdominal sarcoma associated with paraneoplastic pemphigus. Physical examination showed multiple erythematous bullae, crusts, plaques and target-like lesions on the whole body and desquamated erythematous skin lesions on the back and extremities. In the operating room, his right femoral artery was cannulated with a 20 G, 12.7 cm CVP catheter and left femoral and subclavian veins with 14 G, 20 cm CVP catheters, respectively. After application of 4 % lidocaine spray, his oropharynx and supraglottic area were evaluated under direct laryngoscopy and revealed multiple ulcerations on oral mucosa, but no distinct lesion on supraglottic area. Anesthesia was induced by rapid-sequence method with fentanyl, thiopental sodium and succinylcholine followed by endotracheal intubation. The endotracheal tube was held by a roll gauze around the neck and its cuff was minimally inflated to avoid overpressure against his tracheal wall. After the end of surgery, his oral cavity was suctioned with no remarkable bleeding, and tracheal wall including cuff-contacted area was evaluated under fiberoptic bronchoscopy, revealed intact wall without any bulla or ulceration. The patient was transferred to intensive care unit for proper postoperative management after extubation of endotracheal tube.
Anesthesia ; Autoimmune Diseases ; Bronchoscopy ; Catheters ; Extremities ; Femoral Artery ; Fentanyl ; Hemorrhage ; Humans ; Intensive Care Units ; Intubation, Intratracheal ; Laryngoscopy ; Lidocaine ; Mouth ; Mouth Mucosa ; Neck ; Operating Rooms ; Oropharynx ; Pemphigus* ; Physical Examination ; Sarcoma ; Skin ; Subclavian Vein ; Succinylcholine ; Suction ; Thiopental ; Ulcer

No abstract available.
Hernia, Diaphragmatic*

The magnetic resonance images (MRI) of 30 patients with surgically or biochemically confirmed pituitary adenomas (20 macroadenomas, 10 microadenomas) were retrospectively evaluated. Ten patients had hyperprolactinemia, another eight had acromegaly, another eight had nonfunctioning adenoma and four had Cashing disease. The examination were performed at a 1.5-T superconducting MR system using a multisection spin-echo technique with 3mm-thick sections and a 256×224 matrix. TI weighted sagittal and coronal images were obtained before and within 30 minutes after the administration of Gd-DTPA (0.1mmol/kg). Analysis of the MRI was focused on the signal intensity and enhamcement patterns of the pituitary adenoma before and after Gd-DTPA administration. Compared with endocrinologic diagnosis, macroadenoma showed heterogeneous enhacement in 55%, rim enhancement in 35% and homogeneous enhancement in 10%, Conclusively, the enhancement patterns of the pituitary adenoma did not correlate with the subtypes made according to hormone production.
Acromegaly ; Adenoma ; Diagnosis ; Gadolinium DTPA ; Humans ; Hyperprolactinemia ; Magnetic Resonance Imaging* ; Pituitary Neoplasms* ; Retrospective Studies

No abstract available.
Heart Valve Prosthesis* ; Heart Valves*

The determination of proliferative activity in the colorectal mucosa has been used for different purposes as the estimation of cancer risk and the assessment of disease activity in ulcerative colitis. But the prognostic significance of proliferative activity in colorectal carcinomas remains controversial. To investigate the prognostic significance of proliferative activity in colorectal carcinomas, the author estimated the proliferative activity immunohisto chemically using the monoclonal antibody PCNA and compared with clinicopathological data in 62 colorectal carcinomas. The results were as follows: 1) The reactivity of PCNA was more pronounced at the infiltrative margins of the tumors and tumor cells within the vascular or lymphatic channels. 2) The mean PCNA index of colorectal carcinomas was 40.5?0.4%. PCNA indices had positive correlations with lymph node invasion(p<0.05), liver, metastasis(p<0.05), Dukes' stage(p<0.01) and TNM classification(p<0.01), and didn't correlated with location of tumor, size of tumor, histological type and lymphtic or vascular invasion. 3) The patients with high PCNA index(more than 45%) represented higher recurrence or metastasis rate(37.5%) than those with low PCNA index (less than 45%)(19.3%) in Dukes B or C colorectal carcinomas during the follow-up periods, but not significant statistically. These results suggested that the reactivity of PCNA may be a useful prognostic factors in colorectal carcinomas.
Neoplasm Metastasis

No abstract available.
Malignant Atrophic Papulosis*