Epstein's syndrome is a rare disease whish is characterized by the association of thrombocytopenia, macrothrombocytopathia, nephritis and deafness. We experienced a case of Epstein's syndrome in a 12 years old male patient who was presented with a life long history of bleeding, usually as epistaxis, bilateral sensorineural deafness and hematuria with proteinuria starting in late childhood. Hematologic studies showed thrombocytopenia with giant platelets and anemia. A bone marrow aspirate revealed the megakaryocytes to be adequate in number and many giant size platelets. Platelet do not respond to addition of A and epinephrine; collagen and ristocetin induced agglutination response is decreased. It is difficult to be certain the association of thrombocytopenia with giant platelets, nephritis and deafness constitutes a new hereditary disease with a distinct pathogenesis or if it is an expansion of the well recognized Alport's syndrome of hereditary nephritis deafness. We report a case of Epstein's syndrome syndrome with brief review of related literatures.
Agglutination ; Anemia ; Blood Platelets ; Bone Marrow ; Child ; Collagen ; Deafness ; Epinephrine ; Epistaxis ; Genetic Diseases, Inborn ; Hematuria ; Hemorrhage ; Humans ; Male ; Megakaryocytes ; Nephritis ; Nephritis, Hereditary ; Proteinuria ; Rare Diseases ; Ristocetin ; Thrombocytopenia

OBJECTIVE: To analyze the tubal patency in the young-aged women underwent diagnostic laparoscopy with Fitz-High-Curtis Syndrome (FHCS). METHODS: Clinicopathologic results of young-aged women who underwent diagnostic laparoscopy with pelvic inflammatory disease from March 2005 through April 2007 were reviewed. Twenty six patients aged 19-29 years old and preserved their both tubes after diagnostic laparoscopy were included in this study. All were underwent chromopertubation test (CPT) during laparoscopy and postoperative hysterosalpingography (HSG) 3 months later. RESULTS: Of 26 patients, eight patients were diagnosed with FHCS and the others were not. There was no significant difference in mean age, mean hospitalization days, and frequency in past-history of parturition, abortion, chlamydia and gonococci infection between patients with FHCS and with non-FHCS (P>0.05). There was no significant difference in frequency of tubal obstruction in laparoscopic CPT (P>0.05) but not in postoperative outpatient HSG (P<0.05). CONCLUSION: The tubal obstruction may be more frequent in FHCS than non-FHCS and the reliability of laparoscopic CPT for diagnosing the tubal obstruction is supposed to be low. Therefore, as for FHCS patients, HSG should be executed to investigate tubal factor which is helpful to forecast the fertility.
Aged ; Chlamydia ; Fallopian Tube Diseases ; Female ; Fertility ; Hospitalization ; Humans ; Hysterosalpingography ; Laparoscopy ; Outpatients ; Parturition ; Pelvic Inflammatory Disease

Chronic sclerosing sialadenitis, Mikulicz disease or Kuttner tumor has been recently recognized as a spectrum of IgG4-related sclerosing disease. IgG4-related disease is characterized by a high serum IgG4 level and tissue infiltration of IgG4-positive plasmacytes. We report three cases of chronic sclerosing sialadenitis with variably associated systemic involvement. All patients presented with a submandibular mass or swelling, and all the resected submandibular glands showed diffuse lymphocytic infiltration, lymphoid follicles, and septal fibrosis. Two of the specimens revealed numerous IgG-positive plasma cells, most of which were IgG4-positive on immunohistochemical staining. One of them was associated with dacryoadenitis and hypophysitis. The other patient had ureterorenal lesions. Immunohistochemical study was unavailable in remaining one case, but the histologic features along with elevated IgG level and associated pancreatitis supported the diagnosis. All patients received steroid therapy postoperatively and are doing well. Salivary gland involvement in IgG4-related fibrosclerosis should be recognized in systemic medical pathology.
Dacryocystitis ; Fibrosis ; Humans ; Immunoglobulin G ; Mikulicz' Disease ; Pancreatitis ; Plasma Cells ; Salivary Glands ; Sialadenitis ; Submandibular Gland

OBJECTIVES: This study compared attitudes toward antipsychotic treatment according to awareness of the name of their illness in patients with schizophrenia. METHODS: Information on sociodemographic and clinical characteristics, including awareness of the importance of antipsychotic treatment, was obtained through a self-report questionnaire. The Drug Attitude Inventory (DAI) was administered. The data were compared according to awareness of the name of their illness. RESULTS: The study analyzed data for 199 patients with schizophrenia. Of these, 115 patients (57.8%) were aware that their illness was called schizophrenia, while 84 patients (42.2%) knew it by their psychotic symptoms or as another mental illness, such as depression. The patients aware of the name of their illness had significantly longer durations of illness and higher scores on the DAI. They were significantly more likely to have stopped taking medication on their own accord and to agree with the importance of antipsychotic treatment. Statistical significance was sustained in a logistic regression analysis after adjusting for the duration of illness and study site, except for the DAI score, which had borderline significance (p=0.055). In subjects with duration of illness > or =5 years, patients aware of the name of their illness had significantly higher scores on the DAI. CONCLUSION: Awareness of the name of their illness was associated with awareness of the importance of, and a positive attitude toward, antipsychotic treatments in patients. Psycho-education, including telling the patient the correct name of his or her illness, might be needed for maintaining antipsychotic treatment in patients with chronic schizophrenia.
Antipsychotic Agents ; Depression ; Humans ; Logistic Models ; Surveys and Questionnaires ; Schizophrenia

"We retrospectively reviewed the results of 1,850 fine needle aspiration cytology (FNAC) of thyroid nodules performed from 1990 to 1991 in the Department of Pathology, Seoul National University Hospital. Among 1,528 cases and 322 cases aspirated by clinicians and a pathologist, 465 cases (30.4%) and 13 cases (4.0%) of the aspirates were inadequate, respectively. In 227 cases, correlation of the FNAC diagnosis and histologic diagnosis was done. Excluding the inadequate cases, the sensitivity for the detection of neoplasm (malignancy together with follicular adenoma) was 86.4% and the specificity was 70.7%. The overall diagnostic accuracy was 79.0%. There were 16 false-positive cases (7.0%), and 19 false-negative cases (8.4%). The predictive value of each cytologic diagnosis was 92% in papillary carcinoma, and 100% in Hashimoto's thyroiditis. The expectancy of malignancy was 52.8% in ""suspicious malignancy"" and 26.7% in ""atypical lesion""."
Biopsy, Fine-Needle ; Carcinoma, Papillary ; Diagnosis ; Pathology ; Retrospective Studies ; Sensitivity and Specificity ; Seoul ; Thyroid Gland ; Thyroid Nodule ; Thyroiditis

The incidence of pulmonary tuberculosis decreased from 5.1% in 1965 to 1.0% in 1995 in Korea but no statistics about the incidence of urinary tuberculosis have been reported yet. The urinary tuberculosis in childhood is known to be a rare disease because of its long latent period. We report a case of urinary tuberculosis in a 9 year old girl.
Child ; Female ; Humans ; Incidence ; Korea ; Rare Diseases ; Tuberculosis* ; Tuberculosis, Pulmonary ; Urinary Tract*

OBJECTIVE: Several studies have suggested the efficacy of bupropion and escitalopram on reducing the excessive internet game play. We hypothesized that both bupropion and escitalopram would be effective on reducing the severity of depressive symptoms and internet gaming disorder (IGD) symptoms in patients with both major depressive disorder and IGD. However, the changes in brain connectivity between the default mode network (DMN) and the salience network were different between bupropion and escitalopram due to their different pharmacodynamics. METHODS: This study was designed as a 12-week double blind prospective trial. Thirty patients were recruited for this research (15 bupropion group+15 escitalopram group). To assess the differential functional connectivity (FC) between the hubs of the DMN and the salience network, we selected 12 regions from the automated anatomical labeling in PickAtals software. RESULTS: After drug treatment, the depressive symptoms and IGD symptoms in both groups were improved. Impulsivity and attentional symptoms in the bupropion group were significantly decreased, compared to the escitalopram group. After treatment, FC within only the DMN in escitalopram decreased while FC between DMN and salience network in bupropion group decreased. Bupropion was associated with significantly decreased FC within the salience network and between the salience network and the DMN, compared to escitalopram. CONCLUSION: Bupropion showed greater effects than escitalopram on reducing impulsivity and attentional symptoms. Decreased brain connectivity between the salience network and the DMN appears to be associated with improved excessive IGD symptoms and impulsivity in MDD patients with IGD.
Brain ; Bupropion* ; Citalopram* ; Depression ; Depressive Disorder, Major* ; Humans ; Immunoglobulin D ; Impulsive Behavior ; Internet* ; Magnetic Resonance Imaging ; Prospective Studies ; Video Games

BACKGROUND: The literature on variations of rib is limited. Very little has been written in the radiological journal of this country on the subject. It seemed of interest to investigate the nature and incidence of congenital variations in a series of routine chest roentgenograms. The topic of rib variations has not been covered extensively in the radiological journals in Korea. This has presented an opportunity to investigate the nature, type, shape and incidences of congenital rib variations in normal Korean adults from a series of routine roentgenograms. METHODS: Chest radiographs of 5,000 adults (,) who visited our hospital for a routine check-up or for employment physical examinations from January 1996 to September 1998, were consecutively reviewed. The sex distribution consisted of 2,827 male males and 2,173 females (ratio of 1.3:1) with the age range between 19 and 65 years (mean age: 34.6 years). The chest PAs was were analyzed for the presence, type, location, and shape of the rib variations (.) From this data, and we the incidence of each type of variations was calculated. RESULTS: Seventy-six of the 5000 adults (1.52%), 63 male (2.23%) and 13 female (0.6%), showed 88 cases of rib variation (Table 1). Bifid rib (n=35) was the The most common variation was the bifid rib (n=35), followed by hypoplasia of the rib (n=22), flaring of the rib (n=18), bridging of the ribs (n=7), cervical ribs (n=3), and fusion of between ribs (n=3) (Table 2). (New paragraph)Bifid The bifid rib (Table 1) was found most frequent in the right fourth rib (12/35, 34.3%), followed by the left fifth rib (6/35, 17.1%) and right third rib (6/35, 17.1%). Hypoplasia of the rib was common in first rib (20/22, 90.9%). Flaring of the rib was common at fourth rib (8/18. 44.4%, right and left combined) (,) and bridging between ribs was common between first and second rib (3/7, 42.9%). CONCLUSION: The percentage of incidence of rib variations in adults was 1.52%. Bifid rib was the most common variation, followed by hypoplasia, flaring, bridging, cervical rib, and fusion of ribs(,) in decreasing order.
Adult ; Cervical Rib ; Employment ; Female ; Humans ; Incidence* ; Korea ; Male ; Physical Examination ; Radiography ; Radiography, Thoracic* ; Ribs* ; Sex Distribution ; Thorax*

Endometriosis is generally confined to the pelvic viscera and the peritoneum, but it can proliferate in other areas like pleura, skin, extremities, lung, gallbladder, stomach, kidney and surgical scar. Scar endometriosis usually occurs in the surgical scar of previous cesarean sections, hysterotomy and episiotomy. The occurrence of endometrioma in cesarean scar is an infrequent event, usually presenting as a tender abdominal wall mass. We report two cases of abdominal wall endometrioma after cesarean section, which is presented with a brief review of the literature.
Abdominal Wall ; Cesarean Section* ; Cicatrix* ; Endometriosis* ; Episiotomy ; Extremities ; Female ; Gallbladder ; Hysterotomy ; Kidney ; Lung ; Peritoneum ; Pleura ; Pregnancy ; Skin ; Stomach ; Subcutaneous Tissue* ; Viscera

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by neurological, cutaneous, and ophthalmological manifestations. A 33-year-old woman with typical symptoms of NF1 visited Ajou University Hospital. Screening of the whole-messenger RNA region of NF1 at the complementary DNA level by polymerase chain reaction-direct sequencing confirmed the presence of an NF1 mutation at the genomic level. The mutation analysis revealed an in-frame skipping of exon 46 (c.6757_6858del) caused by a point mutation (c. 6792C>A) in exon 46. In this report, we have described the first Korean case of a proband with NF1 that carries an allele with an exon 46 deletion caused by an exonic splicing enhancer site mutation, leading to the skipping of the whole of exon 46 (c.6757_6858del).
Adult ; Alleles ; DNA, Complementary ; Exons* ; Female ; Humans ; Mass Screening ; Neurofibromatosis 1* ; Point Mutation ; RNA