No abstract available.
Hematologic Neoplasms* ; L-Lactate Dehydrogenase* ; Lactic Acid*

No abstract available.
Colorectal Neoplasms*

BACKGROUND: Tandem duplication of chromosome 17p11.2-p12 including peripheral myelin protein 22 (PMP22) gene is the most frequent cause of Charcot-Marie-Tooth 1A (CMT1A). Patients carrying one extra copy of PMP22 develop CMT1A, whereas the deletion of the 17p11.2-p12 region causes hereditary neuropathy with the liability to pressure palsies (HNPP). In the present study, we established the genotyping methods of 6 microsatellite markers (D17S921, D17S9B, D17S9A, D17S4A, D17S918 and D17S122) within the 17p11.2-p12 regions by the hexaplex PCR for the genetic diagnosis of CMT1A duplication and HNPP deletion. METHODS: We established polymorphic behavior and genotyping methods of 6 microsatellite markers (D17S921, D17S9B, D17S9A, D17S4A, D17S918 and D17S122) within the duplication region. The 6 markers were amplified by hexaplex PCR reaction and analyzed by an automatic sequencing analyzer and genotyper program. RESULTS: The genotype distributions of all markers were not significantly deviated from the Hardy-Weinberg equilibrium (P>or=0.05). When comparing the control group and CMT1A, HNPP patients group by the distribution of allele, there is no significant difference in the 5 locus except in the 1 locus (D17S921) among HNPP patients. The specificity was more than 99.9%. The sensitivity of each CMT1 and HNPP was 56.3% (40/71 pedigrees) and 72.1% (31/43 HNPP pedigrees), respectively. CONCLUSIONS: The error rate for the system may be less than 0.001. According to this study, it is possible to have rapid and exact genetic diagnosis of both CMT1A and HNPP, which may be helpful for the development of personalized therapy according to genetic defects.
Alleles ; Charcot-Marie-Tooth Disease ; Diagnosis* ; Genotype ; Humans ; Microsatellite Repeats* ; Multiplex Polymerase Chain Reaction* ; Myelin Sheath ; Paralysis ; Polymerase Chain Reaction ; Sensitivity and Specificity

Cysts of accessory lacrimal gland are rare. They are generally retension cysts that result from obstruction of the excretory duct and are found between the palpebral conjunctiva and the levator aponeurosis. We experienced three cases of subconjunctival cyst in the upper fornix. Histopathological examination showed the cysts lined by two layers and occasionally one layer of epithelium. These cysts seem to be originated from Krause's gland, considering their anatomical location and histopathological findings.
Conjunctiva* ; Epithelium ; Lacrimal Apparatus

The authors reviewed 104 cases(51 men and 53 women) of the orbital tumors diagnosed hitopathologically at the Department of Ophthalmology, Yeungnam University Hospital from March 1984 to April 1996. Age istribution of the orbital tumors was reviewed. Eighty-four cases of benign tumors were found evenly distributed in all decades, but twenty cases of malignant tumors were mainly distributed in 1st, 6th, and 7th decades. The frequency of benign orbital tumors was in the following order; dermolipoma(19%, 20 cases), dermoid cyst(13.5%, 14 cases), mucocele(7.7%, 8 cases), lipoma(6.7%, 7 cases) and pleomorphic adenoma (5.8%, 6 cases). Of malignant orbital tumors, the frequency was in the following order; retinoblastoma (3 cases), malignant melanoma (2 cases), sebaceous carcinoma(2 cases), and maxillary sinus carcinoma (2 cases). Malignant orbital tumors of eight expired cases were revealed as secondary or metastatic orbital tumors.
Adenoma, Pleomorphic ; Classification* ; Dermoid Cyst ; Humans ; Male ; Maxillary Sinus ; Melanoma ; Ophthalmology ; Orbit* ; Retinoblastoma

Functional lacrimal obstruction is a rare physiologic dysfunction of the lacrimal drainage system without any mechanical obstruction. Twelve eyes of 9 patients were diagnosed by syringing, dacryacystography, and lacrimal scintigraphy. Normal drainge pattern was noticed in syringing and in the initial film of dacryocystography. However slow or non-functioning drainge was disclosed in the delay film of dacryocystography and lacrimal scintigraphy. The causes of functional problem were facial nerve palsy, trauma and idiopathic. Conjunctivodacryocystorhinostomy was performed in all 12 eyes with satisfactory results.
Drainage ; Facial Nerve ; Humans ; Paralysis ; Radionuclide Imaging

The combination of dacryocystography and computed tomography have been called as computed tomographic dacryocystography. The authors carried out computed tomographic dacryocystography using water soluble contrast media, Rayvist(R), in two patients with a mass around the lacrimal fossa. This radiologic technique demonstrated that the lacrimal system was not invaded by the tumor and was helpful in planning the surgical approach. The results of excisional biopsy of the mass revealed an epidermoid cyst in both cases.
Biopsy ; Contrast Media ; Epidermal Cyst ; Humans

Paragonimiasis is widely distributed in Far East and Southeast Asia, particularly in Korea. The centralnervous system is the most frequent location for paragonimiasis outside the lungs. We analized the computedtomographic findings of 17 cases which were diagnosed pathologically and clinically as cerebral paragonimiasis.The results were as follows; 1. The ratio of male to female was 10:7 and about 88% of cases were under the age of40 years. 2. The common location so cerebral paragonimiasis were the occipital (12 cases ) and temporal (11 cases) lobes. 3. Precontrast CT findings of cerebral paragonimiasis were low density with calcifications in 6 cases,low and isodensities in 4 cases, mixed densities in 3 cases, only low density in 2 cases and only calcification sin 2 cases. Hydrocephalus (7 cases), mass effect (6 cases), atrophic change(6 cases) and cyst formation (3 cases)were associated. 4. The shape of calcifications in CT scan were soap-bubble or ring in 6 cases, nodular or oval in6 cases, stippled in 4 cases and amorphous conglomerated in 2 cases. 5. The contrast-enhanced 8 cases were 5 ringor rim like, 2 nodular and 1 irregular enhancements, while 9 cases were not enhanced.
Asia, Southeastern ; Far East ; Female ; Humans ; Hydrocephalus ; Korea ; Lung ; Male ; Paragonimiasis ; Tomography, X-Ray Computed

Open reduction and internal fixation of the displaced fractures of the acetabulum represents one of the greatest challenge in fracture surgery. The purpose of our study is to report the results of operative treatment and establish the guideline for the operative treatment of the displaced acetabular fractures with the analysis of the clinical and radiological results. This retrospective study reports the results of 21 fractures in 21 patients(19 male and 3 female) treated by open reduction and internal fixation from January 1990 to July 1994. The patients were followed up more than 1 year and mean length of follow-up was 2.3 years. According to Letournel's classification, we had 9 elementary fractures(42.8%) and 12 associated fractures(57.2%). Among the elementary fractures, the posterior wall fracture was the most common type(7 cases, 33.3%) and the transverse-posterior wall fracture was the most common type among associated fractures(4 cases, 19.0%). Surgical approaches were 14 Kocher-Langenbeck, 6 Ilioinguinal and 1 extended iliofemoral. Indirect reduction and specially designed reduction method using C-arm and radiolucent operating table were also helpful to achieve satisfactory reduction. Overall quality of clinical results was graded according to the D'Aubigne and Postel rating score. Satisfactory reduction was gained in 16 cases(76.1%). Unsatisfactory reduction was gained in 5 cases(23.8%). Among the cases within category of satisfactory reduction, there were 7 excellent and 8 good clinical results. But among unsatisfactorily reduced 5 cases, there were 2 good clinical results. It seems that the satisfactory operative reduction of the fracture is the factor that correlates with a satisfactory clinical result. There were complications such as 3 secondary osteoarthritis(14.2%), 3 wound infection(14.2%, 2 superficial and 1 deep), 2 iatrogenic nerve palsy(9.5%, 1 sciatic and 1 obturator nerve) and 1 intrapelvic protrusion acetabuli(4.7%) and no postoperative ectopic ossification.
Acetabulum ; Classification ; Follow-Up Studies ; Humans ; Male ; Methods ; Operating Tables ; Ossification, Heterotopic ; Retrospective Studies ; Wounds and Injuries

An unusual case of glroependymal cyst involving the lateral ventricle, 3rd ventricle, cerebellopontine angle cistern and prepontine cistern, simultaneously, is reported. The glroependymal cyst is benign developmental cyst that mainly occurs in the cerebrospinal axis in relation to ventricle, but occasionally occurs in relation to extraventricular system, such as subarachnoid space, brain stem and cerebral parenchyme. The histological characteristics of ependymal cyst wall are ependyma-like epithelium and neuroglial tissue.
Axis, Cervical Vertebra ; Brain Stem ; Cerebellopontine Angle ; Epithelium ; Lateral Ventricles ; Subarachnoid Space