Aceruloplasminemia Presents as Type 2 Diabetes Associated with Unexplained Microcytic Anemia: A Case Report / 임상당뇨병

Aceruloplasminemia (ACP) is a rare genetic disorder characterized by the triad of diabetes mellitus, retinal degeneration, and neurological symptoms. The patient’s clinical and biochemical features highlight substantial phenotype heterogeneity, contributing to the difficulties and delay in diagnosing ACP. We described a patient presenting with diabetes and abnormal iron studies due to ACP with typical neuroradiologic abnormality. A 56-year-old female patient visited our hospital with complaints of weight loss and anxiety. The leading cause of unintentional weight loss was uncontrolled diabetes. She was treated with oral hypoglycemic agents. Initial blood tests revealed unexplained microcytic anemia and high ferritin levels. We performed magnetic resonance imaging (MRI) of the brain to alleviate her excessive concerns about normal memory loss. We suspected that she might have ACP, based on the results of cortical pencil lining sign of the brain MRI and microcytic anemia with decreased ceruloplasmin (CP) and increased ferritin levels. Sequence analysis of the CP gene revealed homozygosity for c.2630 G>A, confirming the clinical diagnosis of ACP. The patient was started on deferasirox with progressive normalization of ferritin. In conclusion, unexplained anemia, often with microcytosis, diabetes, and typical neuroradiologic findings, is the best clue for early diagnosis of ACP.

Clinical Features of Undifferentiated Spondyloarthropathy: Comparison with Ankylosing Spondylitis / 대한내과학회지

OBJECTIVES:To investigate the clinical features of undifferentiated spondyloarthropathy among the HLA-B27 positive arthralgic patients and to compare with those of ankylosing spondylitis. METHODS: Two hundred and three HLA-B27 positive subjects among patients with arthralgia in various joints were classified according to the standard diagnostic criteria. The onset age, disease duration, numbers of involved joint, X-ray and bone scan findings were compared between patients with undifferentiated spondyloarthropathy(uSpA) and ankylosing spondylitis(AS). RESULTS: 1) The patients diseases were classified as ankylosing spondylitis(46%), undifferentiated spondyloarthropathy(29%), juvenile spondyloarthropathy(4%), reactive arthritis(3%), psoriatic spondyloarthropathy(1%) and unclassified(17%). 2) In undifferentiated spondyloarthropathy, the durations of the symptoms were shorter than ankylosing spondylitis and the male predominance is less prominent(5: 1 as compared to 17:1 in ankylosing spondylitis). 3) The numbers of involved peripheral joints and the frequency of peripheral joint inflammation were more frequent in undifferentiated spondyloarthropathy while the spinal joint symptoms including sacroiliac joint and the radiological severity grade of sacroiliitis were higher in ankylosing spondylitis. 4) There were no significant differences in bone scan uptake and ESR between undifferentiated spondyloarthropathy and ankylosing spondylitis. CONCLUSION: The prevalence of undifferentiated spondyloarthropathy was notable high in HLA-B27 posicive arthralgic patients when a new classification criteria was applied, Attention should be paid on the diagnosis and progression of this elusive and challenging clinical entity.

A Case of Rheumatoid Arthritis with Eosinophilia and Aspergilloma within the Lung Nodule Resulting in Bronchopleural Fistula / 대한내과학회지

The lung nodule is one of the pleuropulmonary menifestations in rheumatoid arthritis. We report here a case exhibiting hydropneumothorax due to a bronchoplerual fistula resulting from a ruptured rheumatoid lung nodule complicated with a aspergilloma in it. A 39 year-old man with rheumatoid arthritis was admitted because of cough for one month. Multiple subcutaneous nodules were noted and multiple lung nodules were seen on chest X-ray, Peripheral white cells were 9,600/mm3 with 1896 of eosinophils. The percutaneous needle aspiration biopsy of the largest lung nodule of right upper lobe showed massive necrosis without acid fast bacillus, fungus, or malignant cell. Three months after discharge, air-meniscus sign was seen on the biopsied lung nodule on X-ray. Five months later, the patient was readmitted due to dyspnea and chest pain and simple chest X-ray showed hydropneumothorax on the right side. The pneumothorax was not healed after closed thoracotomy and tube drainage, and high fever developed. The pleural fluid culture revealed Pseudomonas aeroginosa and Aspergillus fumigatus. Seventy days after admission, exploratory thoracotomy was done. Aspergilloma was found in the cavitated lung nodule which was ruptured into the pleural cavity through bronchopleural fistula.

Cytologic and Histologic Findings of Acinic Cell Carcinoma of the Salivary Gland Related to Malignant Behavior: 2 Cases Report / 대한세포병리학회지

Acinic cell carcinoma is a slow-growing solid neoplasm of salivary gland. Although their cytological and histological finding is bland-looking, their biological behavior is unpredictable. We experienced two cases of acinic cell carcinoma of the salivary gland diagnosed by fine needle aspiration biopsy and confirmed by tissue examination. They showed different clinical courses. We compared their cytologic and histologic findings. The first case was a right preauricular mass in a 58 year-old female of 3 years duration. The cytologic smear revealed sheets or small clusters of monotonous cells mimicking normal serous acinar cells with little cellular pleomorphism. She underwent superficial parotid lobectomy. The tumor was a well demarcated 1.5cm sized nodular mass without infiltration into surrounding parenchyme. The second case was a left submandibular mass in a 23 year-old male of 4 years duration. The smear showed more severe pleomorphism of the tumor cells than those of previous case. Excisional biopsy was done. The excised tumor was 5.5*3.5*3cm sized multilobulated solid mass with invasion into surrounding parenchyme. The tumor recurred after 20months, thus total excision of the mass and modified radical neck dissection was carried out. From the above findings, cytologic atypism, infiltrative growth pattern and type of initial therapy may be correlated with biologic behavior.

Simultaneous Measurement of Choledochal and Pancreatic Sphincter Motility ; Comparative Study of Manometric Parameters / 대한소화기내시경학회지

If manometric profiles of sphincter of Oddi(SO) measured from the pancreatic duct and the bild duct are essentially equal, then measurement of manometric profiles from only one duct would be adequate in evaluating SO dysfunction. We report a series of 9 patients whom we evaluate with SO manometry. Cannulation of both the biliary sphincter segment and pancreatic sphincter segment was archived consecutively in one session and we compared the manometric parameters of choledochal sphincter from those of pancreatic sphincter. 1) In 7 out of 9 patients(78%), normal manometric finding of SO were seen in both choledochal and pancreatic sphincters. However, in 2 out of 9 cases(22%) abnormal manometric findings were noted in only one sphincter segment. Elevation of basal pressure(n = l) and increased retrograde propagation(n = 1) were found in the pancreatic sphincter segment alone. 2) Tbe mean intraductal pressure in the pancreatic duct was significantly greater(12.6+/- 5.8mmHg) than that of common bile duct(3.8+/- 3.3mmHg)(p<0.01). However, basal pressure, amplitude, frequency and propagation sequence in the phasic contraction of SO were not different significantly between choledochal and pancreatic sphincter segment. In conclusion, SO manometry of both the pancreatic and bile duct is needed if complete manometric information is desired. Selective cannulation of common bile duct and pancreatic duct during SO manometry is necessary in order to diagnose segmental 50 dysfunction.

A Case of Small Intestinal Obstruction Due to a Fragment of Gastric Phytobezoar / 대한소화기내시경학회지

Phytobezoar is rare disease in the stomach and small bowel of the patient without underlying previous gastroenterologic pathology. Because it usually occurs secondarily to peptic ulcer surgery, poor mastication, diabetes mellitus, hypothyroidism and connetive tissue disease. In morden medicine, phytobezoars found in the stomach and/or intestines in humans, are known to be associated with considerable morbidity and even mortality. Patients with gastric bezoar present with chronic postprandial epigastic pain, nausea, and vomitihg. It is diagnosed by endoscopic examination or radiologic study and treated by surgical removal or non-surgical methods including conservative treatment, enzymatic dissolution, and endoscopic removal. We have experienced a case of small intestinal obstruction due to a fragment of gastric bezoar of the patient without underlying etiologic cause. So we report the case with a brief review of literatures.

Two Cases of Mucinous Ductal Ectasia of the Pancreas which Showed Characteristic Pancreatoscopic Findings / 대한소화기내시경학회지

We report two cases of mucinous ductal ectasia of the pancreas which showed characteristic pancreatoscopic findings. They also showed characteristic duodenoscopic findings such as patulous ampullary orifice and mucus leakage from the papilla, and underlying pathology was hyperplasia in one case and adenoma in the other case, The insertions of pancreatoscope into the main pancreatic duct were easy without previous sphincterotomy and whitish frog egg-like mucosa was noted in one case and finger-like papillary projection was noted in the other case.

Immunohistochemical Study of p53 and nm23-H1 Protein in Gastric Carcinoma

The p53 gene, which resides on the short arm of chromosome 17, has been described as a tumor suppressor gene playing a role of G1 checkpoint monitering DNA damage, but mutation of this gene has been shown in numerous types of human cancers. The nm23-H1 gene encodes human NDP(nucleotide diphosphate) kinase. The expression of nm23-H1 gene was postulated to inversely correlate with metastatic potential of malignant tumors. We examined immunohistochemical expression in 30 cases of stomach cancers including 10 cases each of early gastric cancers(EGC), advanced gastric cancers without lymph node involvement, and advanced gastric cancers with lymph node involvement, which were stained with mouse monoclonal antibody of p53(PB53-12) and nm23-H1. Positive nuclear staining of p53 was frequently found in advanced gastric cancers with lymph node involvement (80%). The lymph node positive group showed high expression of p53(80%), and low expression of nm23-Hl(30%) than lymph node negative group. There was no significant correlation of p53 and nm23-H1 expression with tumor size, invasion depth, TNM stages, distant metastasis and histologic differentiation. Based on the present study, the expression of p53 and down regulation of nm23-H1 are thought to be correlated with tumor progression and lymph node involvement, and may be a useful prognostic factor in gastric cancers.

Cytologic Findings of Breast Carcinoma in Fine Needle Aspiration: Comparison with Histologic Findings, Stage and Lymph Node Metastasis / 대한세포병리학회지

In order compare cytologic findings of breast carcinoma in fine needle aspiration cytology (FANC) with histologic findings and prognostic factors including histologic grading, lymph node metastasis and stage, 79 cases of infiltrating ductal carcinoma diagnosed by FANC and confirmed by histology were analysed. We especially attempted to correlate nuclear grade, cellularity and smear pattern with histologic grade, type, status of lymph node metastasis and stage. The results are as follwos : 2. Individual cell pattern was more frequently identified in high histologic grade and scirrhous or solid-tubular type than in low histolgic grade and papillotubular type. 3. Cellularity increased with higher histologic grade and lymph node metastsis. However cellularity was low in scirrhous type. 4. There is no relationship between nuclear grade and histologic type, between smear pattern and lymph node metastasis or stage, and between cellularity and stage. These results suggest that cytologic findings of breast carcinoma such as nuclear grade, cellularity and smear pattern are indicative of histologic findings in relation to histolgic grade and type. Especially, nuclear grade of FANC may yield valuable prognostic information.

A case of Q fever: associated with pancytopenia, hepatitis, and myocarditis / 감염

No abstract available.

The significance of mucin producing cancer in colorectal cancer

No abstract available.

Cytohistopathologic comparative study of aspiration biopsy cytology from various sites / 대한세포병리학회지

A statistical analysis of the diagnostic value for 244 aspiration biopsy cytology(ABC) among a total 1,043 cases from various sites was performed. ABC, using diagnostic terminology similar to that of a surgical pathology reports, was compared to the final tissue diagnosis. For the entire series, a sensitivity of 91.8%, a specificity of 99.3%, a positive predictive value of 98.9%, a negative predictive value of 94.8%, and an efficacy of the test of 96.3% were shown. There were 8 false negative and 1 false positive diagnosis. The diagnostic accuracy was 89.8%. Those results indicate that the ABC is a considerably highly accurate procedure that should be routinely employed.

Radiation-Induced Changes in Cervico-vagical Smears of Uterine Cervical Cancer Patients

Nowday, ionizing radiation is one of the methods eradicating the uterine cervical malignancy. However radiation alone or in combination with surgery have an effect on normal tissue as well as the malignant cells, and their changes have been well described in other countries. Unfortunately, the history of radiation modality for cancer treatment is relatively short and the reports about radiation induced changes are limited in our country. We evaluated the radiation-induced changes in cervico-vaginal smears of 107 uterine cervical cancer patients obtained from March, 1985 to October, 1987. Most patients had been received 5,400 Rads of external radiation and intracavitary radiation. Patient's age ranged from 30 to 67 years old. Of 107 cases, 24 cases were normal, 72 cases showed benign radiation changes, 7 cases revealed radiation dysplasia, and residual and recurrent carcinomas found in one and 3 cases, respectively. Cytoplasmic and nuclear enlargement were the most common and noted in 57 and 38 cases, respectively. Vacuolization and polychromasia of the cytoplasm were identified in 43 and 30 cases, respectively. The most common histiocytic change was multinucleation, which was found in about one third. The radiation changes of the cytoplasm and nuclear enlargement persisted for a long time after completion of radiation, however, nuclear degeneration and multinucleation gradually disappeared after 6 months. The inflammation in background prolonged for a long time but degeneration disappeared after 6 months. The biologic significance of post-radiation dysplasia could not evaluated because of short follow up period.

Radiation-Induced Changes in Cervico-vagical Smears of Uterine Cervical Cancer Patients

Nowday, ionizing radiation is one of the methods eradicating the uterine cervical malignancy. However radiation alone or in combination with surgery have an effect on normal tissue as well as the malignant cells, and their changes have been well described in other countries. Unfortunately, the history of radiation modality for cancer treatment is relatively short and the reports about radiation induced changes are limited in our country. We evaluated the radiation-induced changes in cervico-vaginal smears of 107 uterine cervical cancer patients obtained from March, 1985 to October, 1987. Most patients had been received 5,400 Rads of external radiation and intracavitary radiation. Patient's age ranged from 30 to 67 years old. Of 107 cases, 24 cases were normal, 72 cases showed benign radiation changes, 7 cases revealed radiation dysplasia, and residual and recurrent carcinomas found in one and 3 cases, respectively. Cytoplasmic and nuclear enlargement were the most common and noted in 57 and 38 cases, respectively. Vacuolization and polychromasia of the cytoplasm were identified in 43 and 30 cases, respectively. The most common histiocytic change was multinucleation, which was found in about one third. The radiation changes of the cytoplasm and nuclear enlargement persisted for a long time after completion of radiation, however, nuclear degeneration and multinucleation gradually disappeared after 6 months. The inflammation in background prolonged for a long time but degeneration disappeared after 6 months. The biologic significance of post-radiation dysplasia could not evaluated because of short follow up period.

Porencephaly: An Autopsy Case Report

Porencephaly is a rare congenital anomaly characterized by a cavitary hole extending from the cerebral mantle to the ventricle of the brain and covered by leptomeningeal membrane. It is now generally believed that the porencephaly represents a fetal or neonatal destructive process of the neural tissue. Authors experienced an autopsy case of bilateral porencephaly in a 35-day-old Korean male infant who died of sepsis. The brain weighed 150 gms and morphologically well formed except for two large symmetric defects at the fronto-parietal region. These defects were characterized by cleft-like shape, covering the entire cerebral mantle with resultant direct communication between ventricular cavity and leptomeninges. Thin leptomeningeal trabeculae were covering the cavity. There was a smooth transition between ependyma and roof of the defects. There are focal, microscopic cerebral infarct and abscess without connection with the cavitary lesion. The remaining central nervous system was unremarkable.

Multiple Proliferating Trichilemmal Tumors with Ordinary Trichilemmal Cysts: A case report

Proliferating trichilemmal tumor is one of rare benign tumors of the skin appendages, considering as hamartoma of the terminal hair follicle, isthmic segment of the outer root sheath. We report a case of numerous proliferating trichilemmal tumors admixed with ordinary trichilemmal cysts with femilial history in 64-year-old man. He has total 157 lesions, which are chiefly located in scalp (48), back (32), and also face, neck, trunk, extremities. Histologically, the tumor is composed of irregularly arranged and ansatomosed trabeculae, lobules, or sheets of proliferated trichilemmal squamous epithelium with peripheral palisading of the basaloid cells. Several layers of squamoid or ovoid cells have PAS-positive clear cytoplasm. And it also shows abrupt amorphous, trichilemmal keratinization. Some squamous eddies with mild cellular atypism are associated, but definite invasion or other evidence of the malignancy is not found. usual multiple trichilemmal cysts are admixed with tumor and occasionally exhibit connection between them.

A Pathologic Study on the Common "Epithelial" Tumor of Ovary

One hundred eighty-six cases of ovarian common "epithelial" tumor including 28 endometriosis were reviewed, from the pathology file of the department of pathology of the National Medical Center during a period of 8 years and 6 months from January 1976 to June 1984. The study consisted of 14 cases(77.4%) of benign tumor including 28 cases of ovarian endometriosis, and 21 cases(11.3%) of borderline malignancy and 21 cases(11.3%) of invasive malignant tumors. Among benign common "epithelial" tumors, mucinous cystadenoma(69 cases) was the most frequent tumor, followed by serous cystadenoma (42 cases) and Brenner tumor (5 cases). Of borderline tumor, borderline mucinous tumor (18 cases) was more frequent than serous tumor (3 cases). Serous cystadenocarcinoma(9 cases) was the most frequent malignant tumor, followed by mucinous cystadenocarcinoma(6 cases), endometrioid carcinoma(3 cases) and undifferentiated carcinoma(3 cases). Most ovarian common "epithelial" tumors were prevalent during the reproductive age, but malignant tumors were more prevalent after the age of 40. Although right side was more frequently found (85 vs. 67) there is no significant site predilection. Bilaterality was the most common in undifferentiated carcinoma(66.7%), followed by serous cystadenocarcinoma(44.4%) and Brenner tumor(40%). The size of tumor tended to be larger in malignant tumor than benign. Mucinous tumor were usually larger than serous tumor. There were 7 intrauterine and 1 ectopic tubal prognancy which were associated with ovarian common "epithelial" tumors. Three cases of tumors were excised during Cesarian section. In summary these findings are comparable to other reports in Korea and English literatures. Histologic analysis of borderline and malignant epithelial tumor was done to emphasize their biologic behavor. Further study is required to compare their histological grading and clinical staging with thier survival rate.

A Case of Chronic Granulomatous Disease (Autopsy case)

A 3 year and 3 months old boy with recurrent infections since his age of 5 months was presented with clinical data and autopsy findings. He was the 4th product of healthy parents. His elder brother died of recurrent perianal abscess and sepsis at his age of 3 years. His 2nd elder sister died on the 14th day of life probably from the complication of BCG vaccination. Beginnig with perianal abscesses at his age of 5 months, he has been continuously suffering from recurrent infections such as arthritis, ostomyelitis, pneumonia, epididymitis, subcutaneous abscesses and perianal abscesses. In spite of meticulous supportive and aggressive antibiotic therapy persistent positive cultures for staph. Aureus, klebsiella, E. Coli, Enterococcus and coliform bacilli from different sited were noted. Erythrocyte sedimentation rate of 25 to 40 were constant. White cell count varied frem 15500 to 33400 with polymorphonucleocytes predominance. NBT test showed persistent low scoring of 2% throught the course. He finally died of pneumonia and empyema. At postmortem examination, multiple abscesses and grnulomas of right lung and multipe granulomas in the liver, spleen, lymph node, bone, marrow, adrenal gland, kidney and intestinal wass were noted. At microscopic examination histiocytic granulomas with lipid containing histiocyte infiltrations were noted in every organs described including brain.

A Statisitical survey of Skin Tumors / 대한피부과학회지

The 447 cases of skin tumors were studied at the departments of dermatology and surgical pathology, National Medical Center in Seoul during the period of 18 years and 8 months from January, 1959 to August, 1977. The results were as follows: 1) the total number of specimens surveyed in the study was 447, among which benign tumors accoungted for 234 cases and malignant tumors for 213. 2) Male to female ratio for benign tumors was 1.2:1 and for malignant tumors 2.2:1. 3) Among the 234 cases of benign tumors, 67 cases were epidermal cyst. 53 cases of hemangioma and 34 cases of pigmented neni. 4) Among the 2 cases of malignant melanoma. 5) The peak age incidence for benign tumors were below the 2nd decade, The peak ago incidence for malignant tumors were 50th decade. 6) the sites of predilection of the epidermal cysts were trunk, face and neck. The sites of predilection of the hemangiomas and pigmented nevi were face. 7) The sites of peredilection of the squamaous cell carcinomas were penis(27.1%), lower extremities(25.7%) and face(21.5%) The sites of predilection of the basal cell carcinomas were face(83.3%) 8) The ratio of squamous cell carcinoma ws basal cell careinoma was 4:1. 9) The accuracy of clinical dianosis were 42.7% for benign tumors and 79.3% for malignant tumors.

A Case of Intraventricular Oligodendroglioma Associated with Arterio-Venous Malformation

Bailey and Cushing described the oligodendroglioma firstly in 1926. The oligodendroglioma is rare tumor and involves the ventricular system in 7% to 10% of all cases. The authors present a case of intraventricular oligodendroglioma associated with arterio venous malformations in a 34 year old male who had the history of visual disturbance and mental deterioration, for one month. The diagnosis was confirmed by operation and autopsy.