Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore, final diagnosis should be based on chromosome study. The case that we experienced had typical Pena-Shokeir phenotype, but chromosomal study show 47, XY, +18.
Ankylosis ; Diagnosis ; Extremities ; Fetal Growth Retardation ; Pathology ; Phenotype* ; Polyhydramnios ; Trisomy*

We report a case of sarcoidosis in a 4-year-old girl. She showed the involvements of the skin and eye, which are the characteristics of sarcoidosis in very young patients, and also showed an unusual finding of hepatosplenomegaly. Because the diagnosis of childhood sarcoidosis is difficult and serious sequelae can develop from sarcoidal uveitis, an early skin biopsy and regular ophthalmologic assessment are essential.
Biopsy ; Child, Preschool ; Diagnosis ; Female* ; Humans ; Sarcoidosis* ; Skin ; Uveitis

An ischemic foot can be developed by acute arterial occlusion. Given proper treatment within critical time, the patient can avoid foot amputation and death. Early proper diagnosis and treatment by family physician at the initial clinical interviewing is important in saving the affected leg and the life. Thrombosis and embolism are the common causes of acute arterial occlusion. Thrombosis mostly arises from underlying cardiac disease such as arrhythmia, coronary artery disease and valvular heart disease while arterial occlusion by embolism can be shown on a narrowed artery related with systemic atherosclerosis. Because the treatment options depend on the underlying cause of the acute ischemic foot, it is important to identify the cause of acute ischemic foot. At this paper, we reported a case that the cause of acute ischemic foot of the patient proved paroxysmal atrial fibrillation after some diagnostic tests.
Amputation ; Arrhythmias, Cardiac ; Arteries ; Atherosclerosis ; Atrial Fibrillation ; Coronary Artery Disease ; Diagnostic Tests, Routine ; Embolism ; Embolism and Thrombosis ; Foot ; Heart Diseases ; Heart Valve Diseases ; Humans ; Ischemia ; Leg ; Lower Extremity ; Physicians, Family ; Thrombosis

No abstract available.
Bone Marrow* ; Humans ; Leukemia* ; Peripheral Blood Stem Cell Transplantation*

Pleuropulmonary blastoma (PPB) is a rare malignant dysontogenetic neoplasm primarily affecting children and is characterized histologically by a variably mixed blastematous and sarcomatous patterns. We herein report a very exceptional adult case of PPB. A 21-yr-old male patient presented with a left chest pain of two weeks' duration. A computed tomography scan revealed a large, multicystic tumor occupying the left lower hemithorax, leading to the impression of a ruptured mediastinal cystic teratoma. A thoracotomy for resection of the tumor was performed. On histologic examination, the tumor consisted of cystic walls and associated solid lesions which showed undifferentiated blastemal tissues with focal fibrosarcomatous and rhabdoid features. Immunohistochemically the tumor cells only showed diffuse strong positivity for vimentin. The histologic findings corresponded to a type II PPB. The authors suggest that PPB, especially of type I or II, should be included in the radiologic differential diagnosis of mediastinal cystic neoplasms in a young adult.
Adult ; Diagnosis, Differential ; Human ; Immunohistochemistry ; Lung Neoplasms/*diagnosis/radiography/surgery ; Male ; Pulmonary Blastoma/*diagnosis/radiography/surgery ; Teratoma/*diagnosis/*radiography/surgery ; Tomography, X-Ray Computed ; Vimentin/biosynthesis

BACKGROUND: Examining the biological susceptibility of Mycobacterium tuberculosis to pyrazinamide (PZA) in vitro is very difficult as PZA is inactive under normal culture conditions. The susceptibility test, an enzyme assay for Pzase activity, and a genetic test for pncA gene mutations, were performed in order to predict PZA resistance. METHODS: 28 cultured clinical isolates of Mycobacterium tuberculosis were tested. The biological susceptibility was performed by the absolute concentration method using Lowenstein-Jensen media. The PZase activity was tested by means of Wayne's method. A 710-bp region includes the entire open reading frame of pncA was amplified and sequenced. RESULTS: All six strains with positive PZase activity exhibited no pncA mutations with one strain showing a false resistance in the biological susceptibility test. Among the 22 strains with no PZase activity, 21 exhibited showed pncA mutations. In the biological suscaptibility test, 20 strains were resistant, and one was susceptible, and the other failed to test. The mutation types varied with ten missense, one silent and one nonsense mutation 1 slipped-strand mispairing, and 6 frameshift mutations. Three strains had an adenine to guanine mutation at position - 11 upstream of the start codon. CONCLUSION: The mutation at the pncA promotor region is frequent at -11 upstream position. Automatic sequencing of pncA is a useful tool for rapid and accurate detection of PZA resistant M.tuberculosis, and for demonstrating the epidemiological relatedness of the PZA-resistant M.tubersulosis strains.
Adenine ; Codon, Initiator ; Codon, Nonsense ; Enzyme Assays ; Frameshift Mutation ; Guanine ; Mycobacterium tuberculosis* ; Mycobacterium* ; Open Reading Frames ; Promoter Regions, Genetic ; Pyrazinamide*

We compared the therapeutic effects of concomitant chemoradiotherapy (CRT) using cisplatin to single radiotherapy (RT) in uterine cervical cancer. 34 cases of non-operable uterine cervical cancer were reviewed retrospectively from Mar, 1993 to May, 1996 in St. Mary' s Hospital. The patients were randomly selected to compare the effects of both methods. 22 patients were included in CRT group and 12 patients in RT group. The results were as follows: 1. The decrease of tumor size was not significant (2.17 cm in CRT and 1.95 cm in RT) (p=0.61), but the number of responders of CRT group was larger than that of RT group significantly (p<0.05). 2. The tumor markers showed no significant difference between CRT and RT groups (p>0.05) 3. The overall survival rate showed no difference between two groups (p>0.05). The disease-free survivals for 38 months were 17.02% in CRT and 11.36% in RT, but it was not significant (p>0.05). In conclusion, concomitant chemoradiotherapy showed better rate of response, but size of tumor decrease and tumor markers showed no difference. CRT might improve the overall survival and disease-free survival, although it was not significant in this study. The clinical significance of CRT remains to be determined in large randomized clinical trial.
Chemoradiotherapy ; Cisplatin ; Disease-Free Survival ; Humans ; Radiotherapy* ; Retrospective Studies ; Survival Rate ; Biomarkers, Tumor ; Uterine Cervical Neoplasms*

BACKGROUND: As aging occurs, the skin develops more wrinkles and pigmentation, becomes drier, and loses its elasticity. In previous reports, light-emitting diode (LED) phototherapy was proven to stimulate collagen synthesis and accelerate fibroblast-myofibroblast transformation, which has a composite rejuvenation effect. OBJECTIVE: To evaluate the effectiveness and safety of LED phototherapy with 592 nm yellow light for photoaged skin. METHODS: Forty patients with photoaged skin (Korean photographic scale; grade 4approximately7) were enrolled and treated with an LED device producing 592+/-10 nm yellow light for 5 minutes twice a week for 4 weeks. The skin changes were assessed at 0, 2, 4, and 8 weeks by clinical photographs and the Cutometer(R) & Mexameter(R) (MPA 580, Courage+Khazaka Electronic GmbH, Koln, Germany). Measurements were made on the cheek, periorbital area, nasolabial fold, and glabella. RESULTS: At the final visit at 8 weeks, the Cutometer(R) parameters R4 and R6 decreased significantly compared to before treatment, from 0.118 to 0.099 for the periorbital (p=0.017) and 0.517 to 0.425 for the nasolabial fold (p=0.003). The average melanin index decreased significantly, from 133.65 to 124.55 (p<0.005). Fine improvement of wrinkles was shown grossly by reviewing follow-up clinical photographs. No adverse reactions occurred. LED phototherapy with 592+/-10 nm wavelength can be effective and safe in the treatment of photoaged skin. CONCLUSION: The findings suggest the LED with 592 nm yellow light might be an adjuvant therapeutic tool for photoaged skin.
Aging ; Cheek ; Collagen ; Elasticity ; Follow-Up Studies ; Humans ; Melanins ; Nasolabial Fold ; Phototherapy ; Pigmentation ; Rejuvenation ; Skin*

BACKGROUND: Carbon monoxide (CO) is a cytoprotective and homeostatic molecule with important signaling capabilities in physiological and pathophysiological situations. CO protects cells/tissues from damage by free radicals or oxidative stress. NAD(P)H:quinone oxidoreductase (NQO1) is a highly inducible enzyme that is regulated by the Kelch-like ECH-associated protein 1 (Keap1)/nuclear factor erythroid 2-related factor 2 (Nrf2)/antioxidant response element (ARE) pathway, which is central to efficient detoxification of reactive metabolites and reactive oxygen species (ROS). METHODS: We generated NQO1 promoter construct. HepG2 cells were treated with CO Releasing Molecules-2 (CORM-2) or CO gas and the gene expressions were measured by RT-PCR, immunoblot, and luciferase assays. RESULTS: CO induced expression of NQO1 in human hepatocarcinoma cell lines by activation of Nrf2. Exposure of HepG2 cells to CO resulted in significant induction of NQO1 in dose- and time-dependent manners. Analysis of the NQO1 promoter indicated that an antioxidant responsible element (ARE)-containing region was critical for the CO-induced Nrf2-dependent increase of NQO1 gene expression in HepG2 cells. CONCLUSION: Our results suggest that CO-induced Nrf2 increases the expression of NQO1 which is well known to detoxify reactive metabolites and ROS.
Carbon Monoxide ; Cell Line ; Free Radicals ; Gene Expression ; Heme Oxygenase-1 ; Hep G2 Cells ; Humans ; Luciferases ; Oxidative Stress ; Reactive Oxygen Species ; Response Elements

This study aimed to evaluate whether the elevated level of hypoxia-inducible factor-1 alpha (HIF-1 alpha) correlated with histologic types, angiogenesis, tumor cell proliferation, and clinical parameters in common non-small cell lung carcinomas (NSCLCs). We performed immunohistochemical stains using paraffin-embedded tissue blocks from 84 cases of operable NSCLC [No. of squamous cell carcinoma (SCC), 45; No. of adenocarcinoma (AC), 39]. HIF-1 alpha expression was related with histologic types (66.7% in SCCs vs 20.5% in ACs, p<0.001), but not with lymph node status, tumor stage, vascular endothelial growth factor expression, microvessel density (MVD), and proliferating cell nuclear antigen (PCNA) index (p>0.05, respectively). As for the histologic types, MVD and PCNA index were significantly higher in SCCs than in ACs (p=0.009 and p=0.016, respectively). Among HIF-1 alpha positive carcinomas, MVD was significantly higher in HIF-1 alpha positive SCCs than in HIF-1 alpha positive ACs (p=0.023). The overall survival curves were not associated with HIF-1 alpha expression or any other histologic parameters (p>0.05). These findings suggest that HIF-1 alpha expression in NSCLCs may play a differential role according to histologic types, but its prognostic significance is indeterminate.
Adenocarcinoma/metabolism* ; Adenocarcinoma/pathology ; Animals ; Antigens, CD34/metabolism ; Carcinoma, Non-Small-Cell Lung/metabolism* ; Carcinoma, Non-Small-Cell Lung/pathology ; Carcinoma, Non-Small-Cell Lung/surgery ; Carcinoma, Squamous Cell/metabolism* ; Carcinoma, Squamous Cell/pathology ; Cell Division/physiology* ; Human ; Immunohistochemistry ; Proliferating Cell Nuclear Antigen/metabolism ; Survival Rate ; Transcription Factors/metabolism* ; Vascular Endothelial Growth Factor A/metabolism