Familial Creutzfeldt-Jakob Disease with V180I Mutation

Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1000,000 per year typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion diseases, which develop due to a mutations in the prion protein gene (PRNP), account for an estimated 10 to 15% of all CJD cases. We report a 75-yr-old woman with familial CJD carrying a V180I mutation which features late onset, slow progression, no periodic sharp wave complexes on electroencephalography, and extensive cortical ribboning with spared the cerebellum and the medial occipital lobes posterior to the parieto-occipital sulcus on MRI. To our knowledge, this is the first documented case of a point mutation at codon 180 in South Korea.

Idiopathic Intractable Hiccups Successfully Managed With Gabapentin Monotherapy

No abstract available.

Cerebral Syphilitic Gummata Mimicking Metastatic Brain Tumors

No abstract available.

Spontaneous Intracranial Hypotension Complicated by Cortical Vein Thrombosis

Spontaneous intracranial hypotension (SIH) is characterized by orthostatic headache, diffuse dural thickening, and enhancement in MRI associated with low cerebrospinal fluid pressure. While SIH causes several complications such as subdural hematoma, cranial nerve palsies, and altered consciousness, cerebral venous thrombosis caused by SIH has been rarely described. We report a patient presenting with generalized tonic-clonic seizure that was probably caused by cortical vein thrombosis that had developed after SIH.

Severe Amnestic Dementia With Motor Neuron Disease

Motor neuron disease (MND) and frontotemporal dementia often appear together. We report on a 74-year-old woman who presented with a 18-month history of memory deterioration and MND. Her initial clinical diagnosis was probable Alzheimer's disease (AD) coexisting with MND. We conducted 11C-labeled Pittsburgh Compound-B positron-emission tomography (11C-PIB PET) to discriminate AD from other degenerative dementia, the results from which were negative for amyloid deposition.

Idiopathic Hypertrophic Cranial Pachymeningitis Presenting with Lower Cranial Nerve Palsy Mimicking Meningioma

We report a patient with idiopathic hypertrophic cranial pachymeningitis (IHCP) who presented with headache, tinnitus, hearing loss, dizziness and tongue atrophy. She initially was misdiagnosed as having an en plaque meningioma involving the posterior fossa and foramen magnum on the basis of brain MRI findings. A meningeal biopsy excluded meningioma and a diagnosis of IHCP was made. After immune modulating treatment, the patient's symptoms gradually improved. Our case shows IHCP should be included in the differential diagnosis of meningeal mass.

Single Nucleotide Polymorphisms in the 3'-Untranslated Region of Vascular Endothelial Growth Factor in Diabetic Retinopathy

PURPOSE: Recent studies suggest that increased expression of the vascular endothelial growth factor (VEGF) may play a role in the pathogenesis of diabetic complications. The aim of this study was to assess the potential association of VEGF gene polymorphisms with disease expression of retinopathy in patients with diabetes mellitus. METHODS: We studied 96 diabetic patients to determine whether there is an association between diabetic retinopathy in VEGF and VEGFR gene; all patients were unrelated Korean individuals (PDR, n=32; NPDR, n=25; no DMR, n=39). We analyzed VEGF and VEGFR SNP by restriction fragment mass polymorphism (RFMP). PCR was performed with primers designed to introduce a type IIS restriction endonuclease recognition sequence (FokI, BstF5I) ahead of the polymorphism site. The enzymatic cleavage of the products resulted to excision of two oligonucleotide fragments containing the variation site, and then masses of the resulting oligonucleotide fragments were examined by matrix assisted laser desorption time of flight mass spectrometry (MALDI-TOF MS). Difference are seen as the presence, absence, or mass change in peaks corresponding to the fragments affected by existence of polymorphism that have base substitution at the site of variation. RESULTS: We found that the genotype frequencies of two polymorphisms shown to be completely linked to each other (rs3025039; vf1, rs3025040; vf2) and one polymorphism (rs3812867; vfr1) within 3'-untranslated regions (3'-UTR) of the VEGF and VEGFR1 significantly differed between patients with and without retinopathy. The frequencies of the vf1, vf2 and vfr1 did not differ significantly between the NPDR and PDR group CONCLUSIONS: These data implicate the polymorphisms in the 3'-UTR of the VEGF and VEGFR1 genes as risk factors for diabetic retinopathy.

Vitreous Biopsy Using You's bottle: Safety and Effectiveness

PURPOSE: To evaluation of the safety and the usefulness of our "You's bottle" that we have invented for sampling vitreous. METHODS: We performed the vitreous sampling with our collection bottle in 13 patients who had undergone vitrectomy for diabetic retinopathy. We observed the usefulness and complications after sampling. Collected vitreous was used for analysis of protein components. RESULTS: There was no complication associated with collection bottle. The analysis of proteome was successful. CONCLUSIONS: Our study showed that "You's bottle" might be a useful tool for the research of vitreous.

Radiologic Reports: Attitudes, Preferred Type, and Opinion of Referring Physicians

PURPOSE: To determine referring physicians 'general attitudes, preferred reporting types, and opinions on radiologic reports. MATERIALS AND METHODS: A survey questionnaire was distributed to the 315 staff and residents of four university hospitals with 400 to 800 beds, and a total of 228 physicians responded. The questionnaire aimed to determine of the general attitude of referring physicians to radiologic reports, the type of report they preferred, and other opinions and suggestions. The responses elicited, as well as discrepancies among residents, staff, internist, and surgeons, were analyzed. RESULTS: Most referring physicians replied that they read an entire report regardless of its length, and the second majority read the conclusion first and then the remainder of the report only if clarification was required. With regard to report length, physicians answered that reports describing the findings of conventional radiography were often too short, while those dealing with MRI were verbose. The majority experienced occasional confusion when reading a report, the major cause being grammatical errors and incomprehensible sentence structure. When confused, most physicians consulted the radiologist; staff showed a greater inclination than residents to pursue this option. Most physicians preferred brief phrases or telegraphic-style sentences to a style which stressed completeness and detail, a preference which was statistically higher among residents than staff. Whereas physicians favored a brief radiologic report in cases of normal radiologic findings, conventional radiologic studies or no clinical findings, they wished to see a more detailed report in cases of abnormal radiologic findings, specific radiologic studies (special radiographs, US, CT, or MRI), or positive clinical findings. This need for more detail was expressed more frequently by internists than by surgeons. CONCLUSION: If implemented, the results of this study can be expected to enhance the quality and comprehensibility of radiologic reports, and may also lead to more efficient communication between radiologists and physicians.

Two Cases of Unusual Abscesses in Right Colon Cancer

Two unusual presentations of carcinoma of the right colon are described. One of the two patients presented with huge abdominal abscess with adhesed to surrounding small bowels and the other presented with anterior abdominal wall abscess. Colonic carcinoma very rarely presents as abdominal wall abscess, retropertoneal abscess, groin inflammatory mass, subcutaneous thigh abscess, and obstruction with diastatic rupture of cecum. The appearance of the abscess may antecede any gastrointestinal symptoms, thus lessening the surgeon's suspicion of carcinoma. The literature has been reviewed and the pathology that characterizes such lesions and this management is discussed. The bulky colonic tumors with extensive local invasion and negative mesenteric lymph nodes have a relatively good prognosis if adequate resection is performed.

A case of Rare Extrahepatic Bile Duct Anomaly / 한국간담췌외과학회지

The frequency of anatomical variation of the bile duct system is relatively common. The constitution of a normal biliary confluence by union of the right and left hepatic ducts is reported in only 57% (Couinaud 1957) to 72% (Healy & Schroy 1953) of cases. While many of these variations have little or no clinical importance, some cases cause symptoms and signs, or may lead to incorrect diagnosis and inappropriate management of biliary disorder. We report a case of rare extrahepatic bile duct anomaly in a 60-year-old man. His chief complaint was intermittent right upper quadrant pain for six months.There was a low union of both extrahepatic ducts and the cystic duct. The left extrahepatic duct fused with the right extrahepatic duct anteriorly and the long cystic duct ran alongside and parallel with the right and left extrahepatic duct before joining them. Distal CBD cancer was also combined.

CT Diagnosis of Tracheobronchial Rupture Following Blunt Trauma with Demonstration of the Injury Site: A Case Report1

Tracheobronchial disruption is a rare injury associated with blunt trauma, and for proper management, accurate diagnosis is essential. We describe a case of isolated tracheal rupture following blunt trauma, and the related CT findings, including details of the injury site. Preoperative bronchoscopy was not performed, but the patient immediately underwent surgery, which was successful. This case demonstrates that CT scanning is very helpful both for diagnosis of tracheobronchial injury and for delineation of the exact injury site.

Safety and Immunogenicity of a Pseudomonas aeruginosa Outer Membrane Protein Vaccine(CFC-101) : a Phase I/IIa Clinical Trial / 감염

BACKGROUND: We developed a Pseudomonas aeruginosa outer membrane protein(OMP) vaccine, CFC-101, and the prophylactic efficacy of which has been demonstrated in animal models. In order to evaluate the safety and immunogenicity of the P. aeruginosa vaccine, we carried out a phase I/IIa clinical trial in healthy male volunteers. METHODS: Groups of eight volunteers, including two placebo subjects, were vaccinated intramuscularly with three doses of 0.25, 0.5 or 1.0 mg of the vaccine at one week intervals. Signs of systemic and local reactions observed after vaccination were recorded for each vaccinee for 5 days. Physical examinations were performed on days 0, 1, 7, 8, 14, 15, 21, and 42, and clinical laboratory tests were done on days 0, 3, and 21. Blood samples for assay of serum antibody levels were obtained up to 42 days after the first vaccination. RESULTS: The vaccine was generally well tolerated by all vaccinees, showing no significant side effects. In the three dosage groups, all vaccinees, except one receiving the 0.25 mg dose, showed significant elevation in serum IgG antibody titers against the vaccine proteins, indicating 100% seroconversion in 0.5 and 1.0 mg groups. The human antibodies induced by the vaccine were specific for P. aeruginosa OMPs, as confirmed by western blot analysis and immunoprecipitation assays. The capacity of the human antisera to enhance opsonophagocytic killing activity by polymorphonuclear leukocytes and to confer protection against P. aeruginosa infections indicates that the antibodies elicited by the vaccine have protective efficacy. CONCLUSION: We conclude that the P. aeruginosa OMP vaccine is safe and effective for human use and its optimal dose to be 0.5 or 1.0 mg.

Early Detection and Percutaneous Transluminal Angioplasty of Hemodialysis Fistula Stenoses: Correlation withVenous Dialysis Pressure and Urea Recirculation Rate

PURPOSE: To evaluate the usefulness of venous dialysis pressure(VDP) and urea recirculation rate(URR) for theearly detection of venous stenoses, the most common cause of hemodialysis fistular failure. To correlate theoutcome of early percutaneous transluminal angioplasty(PTA) with VDP and URR after PTA. MATERIALS AND METHODS: Eighty one chronic hemodialysis patients were monitored for VDP and URR during each session of hemodialysistreatment. Twenty-eight patients with elevated VDP and URR underwent fistulography, and the results wereprospectively analysed. PTA was performed in twelve discrete stenoses(>70% reduction of the lumen) in sixpatients. Following PTA, VDP and URR were reevaluated. RESULT: Fistulogramas showed that 15 of 28 patients had 22stenoses. All of these lesions occurred in the proximal vein of an arteriovenous fistula, showing less than 50%reduction of the lumen in six stenoses, 50-70% in four, more than 70% in twelve, and no complete occlusion.Stenosis length was less than 1cm in twelve lesions, 1-3cm in seven, and 3-6cm in three. In 11 of 12 stenoses,angioplasty was successful with no significant residual stenosis remaining. After PTA, mean VDP and URR fellsignificantly : 117.8+/-20.6 mmHg to 99.8+/- 8.2 mmHg (p=0.025), and 22.9+/-16.1 to 7.6+/-7.2(p=0.014), respectively. CONCLUSION: Early detection and early PTA of venous stenoses led to a high initial patency rate when used inconjuction with elective measurement of VDP and URR. After PTA, VDP and URR fell significantly, and there wasclose correlation with the outcome of PTA.

MR Findings of Cyclosporine Neurotoxicity

PURPOSE: To analyze the MR findings of cyclosporine-induced neurotoxicity in patients receiving high dose ofcyclosporine and to suggest the possible pathogenetic mechanism. MATERIALS AND METHODS: The cases of seven patients (2 males, 5 females ; 18-36 years old) who suffered seizures after receiving high-dose cyclosporine for bone marrow transplantation due to diseases such as a plastic anemia or leukemia were retrospectively reviewed. We evaluated the location and pattern of abnormal signal intensity seen on T2 weighted images, the presence of contrast enhancement, and the changes seen on follow-up MR performed at intervals of 12-30 days after initial MR in five of seven patients. We analyzed levels of blood cyclosporine and magnesium, and investigated the presence of hypertension at the site of the seizure. RESULTS: Locations of the lesions were bilateral(n=5),unilateral(n=2), parietal(n=6), occipital(n=6), temporal(n=4), and in the frontal lobe(n=3). Frontal lesions showed high signal intensities in the borderline ischemic zone of the frontal lobe between the territory of the anterior and middle cerebral arteries. In six of the seven patients, cortical and subcortical areas including subcortical U-fibers were seen on T2-weighted images to be involved in the parietooccipital lobes. Only one of the seven showed high signal intensity in the left basal ganglia. All lesions showed high signal intensity onT2-weighted images, and iso to low signal intensity on T1-weighted. In five of seven patients there was nodefinite enhancement, but in the other two, enhancement was slight. In four of seven patients seizures occurred within high therapeutic ranges (250 - 450 ng/ml), while others suffered such attacks at levels below the therapeutic range. After cyclospirine was administered at a reduced dosage or stopped, follow-up MR images showed the complete or near-total disappearance of the abnormal findings previously described. Only two patients had hypertension, and the others normotension. Five of the seven had hypomagnesemia(1.3 -1.74 mg/dl; N : 1.9 -3.1mg/dl). CONCLUSION: Most patients with cyclosporine neurotoxicity showed high signal intensity in the corticaland subcortical areas of the parietooccipital lobes, including subcortical U-fiber, as seen on T2 weighted images,and no abnormal enhancement after Gd-DTPA injection. These MR findings should be helpful for the diagnosis of cyclosporine neurotoxicity.

Combined Transcatheter Arterial Chemoembolization and Percutaneous Ethanol Injection for Treatment of Hepatocellular Carcinoma: Preliminary Study

PURPOSE: Transcatheter arterial chemoembolization (TACE) and subsequent percutaneous ethanol injection (PEi) was attempted in 8 patients with 9 hepatocellular carcinomas (HCCs) for complete tumor necrosis of HCCs less than 5cm in greatest diameter. MATERIALS AND METHODS: PEI was performed with 2-8ml of absolute (99.9%) ethanol two weeks after TACE under CT or ultrasound guidance. For each patient PEI was done twice to four times within 4-10 days of each procedure. After completion of a series of PEI, follow up examination (range:3 months-l.5 year period) was done with angiography, CT or ultrasound and correlated with serum alpha-fetoprotein (AFP) level. RESULTS: On follow up anglograms, the lesions completely disappeared or decreased in size without tumor vessels or staining in 5 of 6 patients. On follow up CT of 6 patients, the lipiodol-laden HCCs were surrounded by non-enhancing low density and the losion sizes were slightly decreased or not changed. These are suggestive of necrosis of tumor itself and adjacent liver parenchyma. The tumors could not be detected on follow up ultrasound examination in 2 patients. Serum AFP was decreased in 7 patients and was well corresponded to the results of imaging modalities. CONCLUSION: The authors concluded that the combined TACE and PEI is an appropriate treatment for small HCCs having high surgical risks.

CT and MR Findings of Persistent Hyperplastic Primary Vitreous(PH PV)

PURPOSE: The purpose of this paper is to discuss the characteristic CT and MR findings in persistent hyperplastic primary vitreous(PHPV) and to compare the detectability of those findings in each modality. MATERIALS AND METHODS: We retrospectively evaluated CT and MR findings in 32 patients with PHPV. Twenty-five patients had CT, 13 patients had MR, and 6 patients had both CT and MR. RESULTS: Major findings of PHPV in 32 patients on both imaging modalities were lens deformity(78%), shallow anterior chamber(72%), heterogeneous vitreous opacity(72%), enhancing hyaloid artery or remnant of fibrotic hand(69%), and microophthalmos(67%). Minor findings were retinal detachment(22%), and vitreous hemorrhage(6%). In MRI, lens deformity(92%) and shallow anterior chamber(85%) were detected most commonly whereas in CT, opaque vitreous(80%) was the most common finding. Findings of enhancing hyaloid vessel or remnant of fibrotic band, considered characteristic of PHPV, were more commonly detectable in MR (85%) than CT(52%). CONCLUSION: Characteristic MR and CT findings of PHPV were lena deformity, shallow anterior chanber, heterogeneons vitreons opacity, enhanciny hgalind artery or remnant fibrotic band, and microphthalmos. MR seemed to be more useful than CT in detecting Globe pathology.