No abstract available.
Epidermolysis Bullosa ; Muscular Dystrophy, Duchenne ; Ornithine Carbamoyltransferase ; Polymerase Chain Reaction* ; Preimplantation Diagnosis*

OBJECTIVE: Preimplantation genetic diagnosis (PGD) is reserved for couples with a risk of transmitting a serious and incurable disease, and hence avoids the undesirable therapeutic abortion. In this study, we evaluated the efficacy of PGD for Duchenne muscular dystrophy (DMD) cases by the fluorescent PCR with polymorphic linked markers and the conventional duplex-nested PCR methods. METHODS: Biopsy of one or two blastomeres was done from the embryos fertilized by ICSI on the third day after fertilization. We performed two cases of PGD-DMD by the duplex-nested PCR for the causative mutation loci and the SRY gene on Y chromosome. The triplex fluorescent PCR for the mutation loci, the SRY gene and the polymorphic microsatellite marker on X chromosome was applied for two cases of PGD-DMD. RESULTS: By the duplex-nested PCR, successful diagnosis rate was 95.5% (21/22), but we could not discriminate the female embryos whether normal or carrier in this X-linked recessive disease. However, the triplex fluorescent PCR method showed 100% (27/27) of successful diagnosis rate, and all female embryos (n=17) were distinguished normal (n=10) from carrier (n=7) embryos. Unaffected and normal embryos were transferred into mother's uterus after diagnosis. A healthy normal male was achieved after PGD with the duplex-nested PCR method and a twin, a male and a female, were delivered with triplex fluorescent PCR method. The normality of dystrophin gene was confirmed by amniocentesis and postnatal genetic analysis in all offsprings. CONCLUSION: The fluorescent PCR with polymorphic marker might be useful in improving the specificity and reliability of PGD for single gene disorders.
Abortion, Therapeutic ; Amniocentesis ; Biopsy ; Blastomeres ; Diagnosis ; Dystrophin ; Embryonic Structures ; Family Characteristics ; Female ; Fertilization ; Genes, sry ; Humans ; Male ; Microsatellite Repeats ; Muscular Dystrophy, Duchenne* ; Polymerase Chain Reaction* ; Pregnancy ; Preimplantation Diagnosis* ; Prostaglandins D ; Sensitivity and Specificity ; Sperm Injections, Intracytoplasmic ; Twins ; Uterus ; X Chromosome ; Y Chromosome

BACKGROUND: Clinically apparent thyroid nodule is a very common disease in adults. Patients are often treated with thyroxine in order to reduce the size of the nodule, but the efficacy of thyroxine-suppressive therapy with thyroxine remains uncertain. We investigated the efficacy of thyroxine-suppressive therapy and the hormonal characteristics during thyroxine therapy to find out whether such measurement could be used to determine the effectiveness of this therapy in patients with benign solitary thyroid nodule proved by aspiration biopsy. METHODS: In this study, 54 patients were randomly assigned to receive L-thyroxine (Group I, n=24) or placebo (GroupII, n=30) for 1 year. High resolution ultrasonography (10MHz) was used to measure the size of the nodules at six month intervals. Thyroid hormones and thyroglobulin assay and FNA (fine needle aspiration) was done at the same time. The dose of thyroxine was 200ug/day. Patients were followed at 6 month intervals. RESULTS: The results were as follows: 1) 13 (54.1%) out of 24 Group I patients after adequate TSH suppression had a statistically significant reduction of nodule size and before-to-after nodule volume ratios were significantly different between the Group I and Group II patients. 2) In the responders among Group I patients, the before-to-after therapy ratio of the nodule volume was not related to the pretreatment nodule size, thyroid hormones and thyroglobulin levels. CONCLUSION: Thus we concluded that an adequate suppressive dose of L-thyroxine significantly altered the volume of the benign solitary thyroid nodules 12 months later.
Adult ; Biopsy, Needle ; Humans ; Needles ; Thyroglobulin ; Thyroid Gland* ; Thyroid Hormones ; Thyroid Nodule* ; Thyroxine* ; Ultrasonography

A 44-year-old man, who had a history of myocardial infarction (MI) due to thrombotic occlusion of right coronary artery (RCA) aneurysm, visited emergency department presenting with ST-segment elevation myocardial infarction (STEMI). The patient had been on oral anticoagulant therapy (warfarin) from the first thrombotic event, but the medication had been recently changed to aspirin 4 months before the second event. Emergent coronary angiography revealed thrombotic total occlusion of RCA with heavy thrombotic burden from middle RCA to the ostium of the posterior descending branch. Combination pharmacotherapy was performed with anticoagulants (heparin), fibrinolytics (urokinase), and Glycoprotein IIb/IIIa antagonists (abciximab), in addition to mechanical thrombosuction. However, on hospital day 2, the patient complained recurrent chest pain and again underwent coronary angiography, which revealed distal embolization of large thrombus to the posterior lateral branch. Coronary flow was recovered after repeated mechanical thrombosuction was performed. This case has shown the importance of aggressive combination drug therapy, accompanied by mechanical thrombosuction in patient with myocardial infarction due to thrombotic occlusion of coronary artery aneurysm and the importance of unceasing life-long anticoagulant therapy in those particular patients.
Adult ; Aneurysm* ; Anticoagulants ; Aspirin ; Chest Pain ; Coronary Aneurysm ; Coronary Angiography ; Coronary Occlusion* ; Coronary Vessels* ; Drug Therapy ; Drug Therapy, Combination ; Emergency Service, Hospital ; Glycoproteins ; Humans ; Myocardial Infarction* ; Thrombectomy ; Thrombosis ; Warfarin*

The syndrome of inappropriate ADH secretion is a disorder characterized by hyponatremia which results from water retention attributable to ADH release. The hallmark of SIADH is hyponatremia due to water retention, in the presence of urinary osmolality above plasma osmolality. The SIADH was initially described by Schwartz et al (1957). This syndrome, first recognized in patients with bronchogenic carcinoma, has now been observed in a variety of other illnesses. Recently, we encountered a 59 year-old female with small cell lung cancer, also she had SIADH. Thus, we present a case and review the literature on the subject.
Carcinoma, Bronchogenic ; Female ; Humans ; Hyponatremia ; Inappropriate ADH Syndrome* ; Osmolar Concentration ; Plasma ; Small Cell Lung Carcinoma* ; Water

OBJECTIVE: Embryonic stem (ES) cells could be differentiated into the specific cell types by alternation of culture condition and modification of gene expression. This study was performed to evaluate the differentiation protocol for mouse and human ES cells to insulin secreting cells. METHODS: Undifferentiated mouse (JH-1) and human (Miz-hES1) ES cells were cultured on STO feeder layer, and embryoid bodies (EBs) were formed by suspension culture. For the differentiation, EBs were cultured by sequential system with three stage protocol. The differentiating ES cells were collected and marker gene expressions were analyzed by semi-quantitative RT-PCR in each stage. Amount of secreted insulin levels in culture media of human ES cells were measured by human insulin specific RIA kit. RESULTS: During the differentiation process of human ES cells, GATA-4, alpha-fetoprotein, glucose transporter-2 and Ngn-3 expression were increased whereas Oct-4 was decreased progressively. Insulin and albumin mRNAs were expressed from stage II in mouse ES cells and from stage III in human ES cells. We detected 3.0~7.9 microU/ml secretion of insulin from differentiated human ES cells by in vitro culture for 36 days. CONCLUSION: The sequential culture system could induce the differentiation of mouse and human ES cells into insulin secreting cells. This is the first report of differentiation of human ES cells into insulin secreting cells by in vitro culture with serum and insulin free medium.
alpha-Fetoproteins ; Animals ; Culture Media ; Embryoid Bodies ; Embryonic Stem Cells* ; Feeder Cells ; Gene Expression ; Glucose ; Humans ; Insulin* ; Insulin-Secreting Cells* ; Mice ; RNA, Messenger

PURPOSE: To report a case of globe perforation and linear retinal tear after periocular acupuncture therapy which resulted in persistent temporal field defect with normal retinal function evidenced by multifocal electroretinogram (MERG). CASE SUMMARY: A 42-year-old female presented with decreased visual acuity and pain in her right eye after a periocular acupuncture therapy for blepharospasm. At initial presentation, the best corrected visual acuity (BCVA) was 0.08 in the injured eye and the intraocular pressure was 15 mmHg. Ultrasonography showed minimal vitreous hemorrhage and fundus examination revealed a linear retinal tear in the posterior pole sparing the macula. Consequently, barrier laser photocoagulation was performed around the lesion. The patient suffered from metamorphopsia and persistent decreased visual acuity even after 3 months. On fundus examination, epiretinal membrane with macular pucker was observed on the macula. Spectral domain optical coherence tomography (SD-OCT) revealed retinal nerve fiber layer defect with a full-thickness posterior wall tear. Multifocal electroretinogram showed normal retinal function; however, Humphrey visual field test demonstrated field defect corresponding to the injury. A 25-gauge pars plana vitrectomy was performed with membranectomy and ILM peeling. One month postoperatively, improvement in BCVA and metamorphopsia was achieved; however, the scotomata remained unchanged. CONCLUSIONS: Ocular perforation or retinal tear caused by an acupuncture needle is a rare condition that has not been reported previously in Korea. Furthermore, no case of traumatic visual field defect with preserved retinal function has been reported elsewhere. Hence, the authors present a case of isolated visual field defect without retinal dysfunction following full-thickness retinal tear caused by an acupuncture needle.
Acupuncture ; Acupuncture Therapy ; Adult ; Blepharospasm ; Disaccharides ; Epiretinal Membrane ; Eye ; Female ; Humans ; Intraocular Pressure ; Korea ; Light Coagulation ; Needles ; Nerve Fibers ; Retinal Perforations ; Retinaldehyde ; Tomography, Optical Coherence ; Vision Disorders ; Visual Acuity ; Visual Field Tests ; Visual Fields ; Vitrectomy ; Vitreous Hemorrhage

BACKGROUND AND OBJECTIVES: The growth of tumor is dependent on angiogenesis. Expressions of vascular endothelial growth factor (VEGF) as a prognostic indicator has been documented for various types of human tumors. The purpose of this study was to investigate the relationship between the expression of VEGF and the differentiation and TNM stage of the laryngeal squamous cell carcinoma. MATERIALS AND METHOD: The VEGF expression was evaluated by immunohistochemical staining with monoclonal anti-VEGF antibody in 28 cases of the laryngeal squamous cell carcinoma. RESULTS: The positive staining for VEGF was observed in 5 (31.3%) out of 16 cases of well differentiated carcinomas and 7 (58.3%) out of 12 cases of moderately differentiated carcinomas. Comparing with the TNM staging system, no positive staining was found in any of the stage I cases; however, 2 out of 6 cases (33.3%) of stage II, 3 out of 7 cases (42.9%) of stage III and 6 out of 9 cases (66.7%) of stage IV showed positive staining for VEGF. There was statistical relationship between the differentiation and positive expression for VEGF, but not between the stage of the laryngeal squamous cell carcinoma and the VEGF expression. CONCLUSION: These results suggest that there is a clinical correlation of VEGF expression to the progress of differentiation and tumor stages.
Angiogenesis Inducing Agents ; Carcinoma, Squamous Cell* ; Humans ; Larynx ; Neoplasm Staging ; Vascular Endothelial Growth Factor A*

BACKGROUND AND OBJECTIVES: Recurrent squamous carcinoma of head and neck carcinoma is not encountered infrequently. Surgical salvage is the most reasonable treatment for recurrence. The aim of the present review is to provide more information on the results and prognosis of surgical salvage after surgery alone or surgery with combined radiotherapy. MATERIALS AND METHODS: The operative salvage of recurrent head and neck carcinoma after surgery alone or surgery with combined radiotherapy was retrospectively studied in 18 patients treated between 1994 and 1999. Of the 18 patients in this retrospective review, there were 6 with local recurrence, 8 with regional recurrence, and 4 with stomal recurrence. RESULTS: The operative mortality was 16.6% and 72% of patients had one or more surgical complications. The 2-year crude survival rate in this series was 30% and the mean period of survival was 11.4 months. The 2-year survival rate were 33.3% for local recurrence and 50% for regional recurrence, and 0% for stomal recurrence. CONCLUSION: We concluded that surgical salvage had unsatisfactory results for patients with recurrent head and neck carcinoma after surgery alone or surgery with combined radiotherapy. Because of this low salvage rate, we should regard salvage surgery as palliative rather than therapeutic.
Carcinoma, Squamous Cell ; Head and Neck Neoplasms* ; Head* ; Humans ; Mortality ; Neck ; Neoplasm Metastasis ; Prognosis ; Radiotherapy* ; Recurrence ; Retrospective Studies ; Salvage Therapy ; Survival Rate