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

Sparganosis is a parasitic infestation which is manifested principally in the cats or dogs, but many human infestations have not been reported uncommonly. In Korea, the reported cases of human sparganosis are more than 20 cases till now Moreover the urogenital infestation of sparganosis is rarely observed. We have experienced one case of sparganosis in scrotum, which would often be confused with the sperm granuloma.
Animals ; Cats ; Dogs ; Granuloma ; Humans ; Korea ; Scrotum* ; Sparganosis* ; Spermatozoa

Crowded group is composed of 60 subjects who visited Yonsei University for orthodontic treatment and has no history of orthodontic treatment. Noncrowded group is composed of 26 subjects who has no crowding, considered to have a normal occlusion and no history of orthodontic treatment. Currently available and approved analytic method was used. Interrelationship between tooth size and arch size, and it's correlation on tooth crowding was studied and the following results were obtained. 1. In comparison of sum of mesiodistal width, of crown size of teeth was greater in noncrowded group than that of crowded group on both arch. (p<0.01). 2. In comparison of arch lengths, the values measured from arch length 2 showed greater in non crowded group (p<0.01). Also in crowded group, arch length 1 showed greater value than arch length 2 on both arch (p<0.01). 3. In comparison of arch widths, upper interlateral (p<0.01) and upper intercanine width (p<0.05) showed greater value in noncrowded group on upper arch and intermolar width showed greater value in noncrowded group on both upper and lower arches (p<0.05). 4. In comparison of arch perimeters, arch perimeter 2 was greater value in noncrowded group on both upper and lower arches (p<0.01). 5. Dentoalveolar disproportion was greater in noncrowded group on both upper and lower arches (p<0.01). 6. In lower incisors MD/FL ratio, the central and lateral incisors were greater in crowded group, but statistial significance was only in lateral incisors (p<0.01) 7. The irregularity index of lower incisors showed greater value in crowded group (p<0.01).
Crowns ; Incisor ; Malocclusion ; Statistics as Topic* ; Tooth

Retrocaval ureter is a rare congenital anomaly and its embryologic error is probably one of the vena cava rather than the ureter. Since 1893, when Hocbstetter first described this condition, about 200 cases have been reported. Herein we added a case of retrocaval ureter in 26 years old man.
Adult ; Humans ; Retrocaval Ureter* ; Ureter

A clinical observation was made on 201 cases of pediatric in-patients with urological diseases in the Department of Urology, Korea General Hospital, from September 1, 1972 to August 31, 1979. The results obtained were as follows. 1) Among 1009 cases of urological in-patients for the past 7 years, 201 cases belong patients giving 19.9%. 2) Yearly number of pediatric in-patients showed no increasing tendency. 3) The proportion of male to female pediatric urologic in-patients was 17: 1. The preschool children (1 to 6 years of age) were most frequently seen and giving a rate of 44.8% of the pediatric urologic in-patients. 4) The most frequently involved organ was scrotal contents, giving a rate of 57.7%. Urethral diseases was 14.9%, penile diseases l0.9%, renal diseases 8.5%. 5) The congenital anomaly was most frequent, showing l55 cases of total pediatric urologic in-patients (77.2%). The most common disease of the congenital anomaly was hydrocele in 60 cases (29.9%) and cryptorchism 47 cases (23.4%), hypospadia 24 cases (11.9%), phimosis 16 cases (8.0%) in order. 6) Of 201 cases, operation was performed in 179 cases (88.6%). The most common operation was hydrocelectomy 60 cases (33.5%), orchiopexy 47 cases (26.3%), circumcision 22 cases(12.3%), chordectomy 17 cases (9.5%), urethroplasty 7 cases (3.9%) in order.
Child, Preschool ; Circumcision, Male ; Cryptorchidism ; Female ; Hospitals, General ; Humans ; Hypospadias ; Korea ; Male ; Orchiopexy ; Pediatrics ; Penile Diseases ; Phimosis ; Urethral Diseases ; Urologic Diseases* ; Urology

This report deals with a case of malakoplakia of urinary bladder in a 68 year old female. The lesion of malakoplakia has been misdiagnosed as a neoplasm on several occasions in other institutes. This disease has been reported seldomly, and many urologists and pathologists alike have been unfamiliar to the lesion. An emphasis on the clinicopathologic features is made in order to prevent the serious misdiagnosis. The pertinent literatures are reviewed.
Academies and Institutes ; Aged ; Diagnostic Errors ; Female ; Humans ; Malacoplakia* ; Urinary Bladder*

The authors present a case of human Thelaziasis in Korea with the review of literatures. The patient was 58-year-old Korean housewife who visited with the complaints of foreign body sensation and lacrimation in her right eye. A day prior to the presentation, she extracted 2 living worms from the same eye by herself. But, after the examination of the eye, 3 living worms were removed under topical anesthesia with 0.5% Pontocaine. The worms were slender and creamy white Thelazia worms. Two of those were 13.3mm in length, 0.5mm in diameter and the other was 18.0mm in length, 0.6mm in diameter.
Anesthesia ; Foreign Bodies ; Humans ; Korea ; Middle Aged ; Sensation ; Tetracaine ; Thelazioidea

PURPOSE: This experimental study investigates the effect of mitomycin C(MMC) on the healing of sinus mucosal opening. METHODS: One hundred and twenty rabbits were used and divided into 8 groups of fifteen rabbits. A small(1.35 mm) or large(2.7 mm) diameter mucosal opening was created by drilling in the medial wall of the left maxillary sinus of rabbits and treated with MMC at a concentration of 0.2 or 2.0 mg/ml for 5 or 30 minutes. Five rabbits from each group were sacrificed at 1,2 & 4 weeks. The size of a remained mucosal opening was measured and light and electron microscopic examination were performed. RESULTS: After comparing the sizes of remained mucosal openings among the small opening groups(group 1,3 & 5), group 5 maintained larger opening at 2 weeks than the control group(P<0.05). Light microscopy of the specimens showed inflammatory and degenerative changes. The bone of the maxillary sinus exhibited minimal change induced by MMC. Scanning electron micrographs showed heterochromatin in nuclei and mitochondrial swelling of the epithelium. CONCLUSIONS: The MMC was effective in maintaining a larger mucosal opening than control group at least for 2 weeks following surgery.
Epithelium ; Heterochromatin ; Maxillary Sinus ; Microscopy ; Mitochondrial Swelling ; Mitomycin* ; Rabbits*

The malignant small round cell tumor of the thoracopulmonary region was described by Askin in 1979 and called as Askin Tumor. The Askin tumor is a rare, arises from the soft tissues of the chest wall or peripheral lung which is predominantly in younger generation. Clinical and pathologic appearance were very similar to Ewing's sarcoma and rhabdomyosarcoma but when examined it by electron microscopy, there was some different in morphology. The tumor tended to recur locally and did not seem to disseminated widely but the median survival was only 8 months.
Lung ; Microscopy, Electron ; Rhabdomyosarcoma ; Sarcoma, Ewing ; Thoracic Wall

We treated 4 patients with uric acid calculi in the renal pelvis or ureter with alkaline fluid irrigation through percutaneous nephrostomy (PCN) tube. Initial presentations were anuria or severe flank discomfort, we performed PCN to relieve such obstructive symptoms caused by uric acid calculi. We tried to dissolve uric acid calculi with normal saline mixed to sodium bicarbonate through a PCN tube. The success of therapy is believed to be related to the direct and constant urinary alkalinization effect obtained with irrigation compared to be the intermittent alkalization that occurs when oral agent are used.
Anuria ; Calculi* ; Humans ; Kidney Pelvis ; Nephrostomy, Percutaneous* ; Pregnenolone Carbonitrile ; Sodium Bicarbonate ; Ureter ; Uric Acid*