No abstract available.
Phenylketonurias*

PURPOSE: To report the results of acetabular revisions performed with the cementless, hemi-spherical porous coated component supported by viable host bone and minimal allobone graft for acetabular deficiencies. MATERIALS AND METHODS: A retrospective study was completed for 22-revision acetabular components, using the cementless hemispherical porous coated prosthesis and minimal femoral head allograft. There was an average follow up of 48 months, with a range of 24 to 84 months. Radiographic measurements were performed in several aspects; cup-allograft contact, inclination, vertical and horizontal migration of acetabular cup, and acetabular zone by modified zone of DeLee and Charnley, in which location, size and progression or non-progression of radiolucent zone were recorded. The acetabular deficiencies were classified by the American Academy of Orthopaedic Surgeons Committee and were type I in 2 hips (9%), type II in 12 hips (55%), and type III in 8 hips (36%). Twenty acetabular cup cases of Harris-Galante II were used in this study, 1 case of Harris- Galante I, and 1 case of Duraloc. The average size of the cup was 57(44-66) mm. RESULTS: The average cup-allograft contact was 72.5% in 19 cases and we could not differentiate the margin between the host bone and the allograft in 3 cases. There was no significant vertical or horizontal migration of acetabular cup. Radiolucent zones in follow-up radiographs were 8 cases in zone IA, 4 cases in zone IB, 4 cases in zone IIB, 9 cases in zone IIC, 8 cases in zone IIIA, and 7 cases in zone IIIB. One case showed 2 mm radiolucent area in zone IIC and another case showed 3 mm radiolucent area in zone IIB, but the radiolucencies were not progressive. The remaining cases showed less than 0.5 mm radiolucent area or no radiolucent zone. The average period of bony incorporation was 13.1 months. CONCLUSIONS: We suppose that acetabular revision with the cementless hemispherical porous coated cup supported by viable host bone and minimal bone graft produces good results.
Acetabulum* ; Allografts ; Follow-Up Studies ; Head ; Hip ; Prostheses and Implants* ; Retrospective Studies ; Transplants

Apoptosis is an intrinsic and fundamental biological process that plays a critical role in the normal development of multicellular organisms and in maintaining tissue homeostasis. Some of the well known regulators of apoptosis are cytokines of the tumor necrosis factor(TNF) ligand family, such as Fas ligand(Fas L) and TNF, which induce apoptosis by activation of their corresponding receptors, Fas and TNFR-1. Recently, a new member of the TNF family known as TRAIL (TNF-related apoptosis-inducing ligand) was identified and shown to induce p53-independent apoptosis in a variety of tumor cell lines but not in normal cells, Four human receptors for TRAIL were also recently identified and designated TRAIL-R1, -R2, -R3, and -R4. The aim of this study is to examine whether TRAIL and TRAIL receptots(-R1, -R2, -R3) are expressed in uterine cervical cancer and whether it is correlated with apoptosis, TRAIL and TRAIL receptors. The subjects were 20 patients who were diagnosed with cervical cancer. Western blotting was performed in 9 cases, immunohistochemical staining for TRAIL and TRAIL receptors(-R1, -R2, -R3) and TUNEL method for detection of apoptosis in 11 cases. There were proteins for TRAIL, TRAIL-R1, -R2, and -R3 in tissues from cervical cancer. All TRAIL receptors were expressed in both normal cervical epithelium and tumor cells, and TRAIL-Rl and -R2 were more strongly expressed in tumor cells than normal epithelium(p<0.05). Apoptosis correlated with expression of TRAIL-Rl and -R2(p<0.05). This study suggests that TRAIL induces apoptosis in cervical cancer through its receptors.
Antigens, CD95 ; Apoptosis ; Biological Processes ; Blotting, Western ; Cell Line, Tumor ; Cytokines ; Epithelium ; Homeostasis ; Humans ; In Situ Nick-End Labeling ; Necrosis ; Receptors, TNF-Related Apoptosis-Inducing Ligand* ; Uterine Cervical Neoplasms*

PURPOSE: We reviewed the treatment outcomes and prognostic factors for patients with anal canal carcinoma who were treated with curative intent chemoradiotherapy (CRT) at Severance Hospital from 2005 to 2011. MATERIALS AND METHODS: Data for 38 eligible patients treated during this period were reviewed. All patients were treated with curative intent using radiotherapy (RT) with (n = 35) or without concomitant chemotherapy (n = 3). Among 35 patients who received CRT, most of the chemotherapeutic regimens were either 5-fluorouracil (5-FU) plus mitomycin C (23 patients) or 5-FU plus cisplatin (10 patients). Recurrence-free survival (RFS), colostomy-free survival (CFS), overall survival (OS), and locoregional control (LRC) rates were calculated using the Kaplan-Meier method and survival between subgroups were compared using the log-rank test. Cox's proportional hazard model was used for multivariate analysis. RESULTS: Over a median follow-up period of 44 months (range, 11 to 96 months), 3-year RFS, CFS, OS, and LRC were 80%, 79%, 85%, and 92%, respectively. In multivariate analysis, tumor size >4 cm was an independent predicting factor for poorer RFS (hazard ratio [HR], 6.35; 95% confidence interval [CI], 1.42 to 28.5; p = 0.006) and CFS (HR, 6.25; 95% CI, 1.39-28.0; p = 0.017), while the presence of external iliac lymph node metastasis was an independent prognosticator for poorer OS (HR, 9.32; 95% CI, 1.24 to 70.3; p = 0.030). No treatment-related colostomies or deaths occurred during or after treatment. CONCLUSION: Curative intent CRT resulted in excellent outcomes that were comparable to outcomes in previous randomized trials. No severe treatment-related toxicities were observed.
Anal Canal ; Anus Neoplasms ; Carcinoma, Squamous Cell ; Chemoradiotherapy ; Cisplatin ; Colostomy ; Fluorouracil ; Follow-Up Studies ; Humans ; Lymph Nodes ; Mitomycin ; Multivariate Analysis ; Neoplasm Metastasis ; Proportional Hazards Models

We describe a Korean family presenting with pediatric-onset, progressive, generalized dystonia with bilateral striatal necrosis and the homoplasmic G14459A mutation in the mitochondrial ND6 gene. The G14459A mutation has been reported in families presenting with Leber hereditary optic neuropathy (LHON) alone, LHON plus dystonia, or pediatric-onset dystonia. The proband had shown dysarthria, progressive generalized dystonia, and spasticity at 5 yr. Brain MRI demonstrated bilateral striatal necrosis. Additional investigation of family members revealed the presence of homoplasmic G14459A mutation in asymptomatic individuals. The clinical manifestation of the homoplasmic G14459A mtDNA mutation within the same family showed asymptomatic or pediatric-onset dystonia, without optic neuropathy. This study reemphasizes that the G14459A mutation is a candidate mutation for maternally inherited dystonia, regardless of optic neuropathy, and supports the hypothesis that nuclear genes may play a role in modifying the clinical expression of mitochondrial disease.
Adult ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; Brain/pathology ; Dystonia/complications/diagnosis/*genetics ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Mitochondrial Diseases/complications/diagnosis/*genetics ; NADH Dehydrogenase/*genetics ; Necrosis ; Optic Atrophy, Hereditary, Leber/genetics ; Pedigree ; *Point Mutation ; Republic of Korea

Though the primary carcinoma of the vermiform appendix is rare, the secondary carcinoma of the vermiform appendix is extremely rare. About fourty cases have been reported through the world. The breast is most common primary site, and adenocarcinoma is most common form. The metastatic carcinoma of the vermiform appendix, from squamous cell carcinoma of the uterine cervix, were extremely rare. The authors experienced a case of metastatic squamous cell carcinoma of the vermiform appendix, in thirty-two years old housewife. She was diagnosed with carcinoma of the uterine cervix on December, 1983, and treated with a radical hysterectomy on February, 1984, at Chicago, and with a radiation therapy. She had been suffered from palpable masses on left axilla and left neck region, and and coughing and chest pain. After an excision biopsy, on August, 1984, she showed intestinal obstruction sign including abdominal distension with abdominal pain. A right-sided hemicolectomy was performed on November, 1984. During gross examination, the wall of the distal portion of the vermiform appendix was moderatery thickened, and showed homogeneous light yellow cut surface. On microscopic examination, there were clusters of tumors that had negative stained preparations. On electron microscopic examination, the secretory granules were not found, and the characteristics of squamous cells, including intercellular spaces, desmosomes and tonofibrils, were noted.
Adenocarcinoma ; Neoplasm Metastasis

Three rare tumors of the oral cavity are presented. Lingual chondromas, approximately twenty to thirty cases appear to have been reported since the lesion was first described by Berry in 1892, which are usually seen on the lateral borders in the anterior two thirds of the tongue, while the ventral surface and the posterior third are rarely involved. Chondromas of the tonsil are of very rare occurrence, which are thought to arise as a result of metaplasia, rather than from embryonic rests, with chronic fibrosing inflammation being the inciting factor. Because of its rarity, the following cases of chondroma of the tongue and tonsil are being added to small list of such case reported in the literature.

The complex group of changes which occurs during the intrauterine maturation of the urinary tract gives rise to several anomalies including those of the urachus. The occurrence of patent urachus is very rare and 67 cases has been reported by world literature since 1550, first description of patent urachus by Bartholomaeus Gabriolus A brief discussion of embryology, diagnosis and treatment is included for completeness. And a case of congenital patent urachus was seen at Han Ill Hospital.
Diagnosis ; Embryology ; Urachus* ; Urinary Tract

Human Adjuvant Disease(HAD) is a connective tissue disease occuring after cosmetic surgery with a foreign substance. It was first reported by Miyoshi in 1964. There have been specific connective disorders such as systemic lupus erythematosus, rheumatoid arthritis, progressive systemic sclerosis and mixed connective tissue disease. Scleroderma is the single most commonly reported disease. A 55-year-old woman was seen for evaluation of dypnea. Four years previously, she underwent cosmetic surgery with silicone injected directly into eyelid, forehead, both hand and monspubis. The patient presented the classic feature of systemic sclerosis and pericardial effusion. Following pericardiocentesis, she felt somewhat better and became less dyspneic. Seventeen days later, however, she progressively deteriorated and died in spite of intensive medical therapy and supportive care.
Arthritis, Rheumatoid ; Connective Tissue Diseases ; Eyelids ; Female ; Forehead ; Hand ; Humans ; Lupus Erythematosus, Systemic ; Middle Aged ; Mixed Connective Tissue Disease ; Pericardial Effusion ; Pericardiocentesis ; Scleroderma, Diffuse ; Scleroderma, Systemic ; Sclerosis* ; Silicone Gels* ; Surgery, Plastic*

Colorectal cancer during pregnancy is rare but the trend for women to delay pregnancy until later in life may result in increased incidence of colorectal cancer during pregnancy. The most common symptoms are rectal bleeding, abdominal discomfort, abdominal distension, anorexia, nausea, vomiting, constipation, anemia and weight loss. Rectal bleeding, if it is occurred, is often attributed to hemorrhoids, a common finding of pregnancy and many of these symptoms are commonplace in normal pregnancy. This delays diagnosis of colorectal cancer during pregnancy and leads to more advanced stage and poor prognosis compared to the general population. We experienced a woman at 27 weeks gestation who complained of low abdominal distention and was diagnosed of sigmoid colon cancer and underwent cesarean section and hemicolectomy at 30 weeks gestation, so we present it with brief review of literature."
Anemia ; Anorexia ; Cesarean Section ; Colorectal Neoplasms* ; Constipation ; Diagnosis ; Female ; Hemorrhage ; Hemorrhoids ; Humans ; Incidence ; Nausea ; Pregnancy* ; Prognosis ; Sigmoid Neoplasms ; Vomiting ; Weight Loss