No abstract available.
Phenylketonurias*

No abstract available.
Cryopreservation* ; Humans* ; Oocytes*

Phenylketonuria is metabolic disorder that results from a deficiency of the hepatic phenylalanine hydroxylase. But among patients with hyperphenylalaninemia, the defect resides in one of the enzymes necessary for production or recycling of tetrahydrobiopterin (BH4). The reduction of BH4 affects not only phenylalanine metabolism but also formation of the tyrosine related neurotransmitter, dopamin and tryptophan related neurotransmitter, serotonin. Administration of L-dopa and 5-hydroxytriptophan seems to be the most effective treatment and may prevent irreversible neurologic damage if started early in life in hyperphenylalaninemia due to deficiency of cofactor BH4. Therefore, all patients with PKU and hyperphenylalaninemia should be tested for BH4 deficiency as early as passible. So we measured reduced forms of biopterin in urines of 19 phenylketonuria patients by Funkushima and Nixon method and 13 of PKU patients measured dihydropterin reductase (DHPR) in white blood cells by modified Narisawa method. We could not find abnormal pterin patterns of cofactor BH4 and normal value of DHPR. All Korean 19 PKU children were classic PKU. A missense mutation has been identified in the phenylalanine hydroxylase (PAH) gene of 16 Koran PKU patients. 5 mutations (IVS4, Y204 C, R243Q, Y356 X, R413 P) have been identified. The frequency of these mutations was found to be 50% of PKU alleles. The IVS4 mutation had a high frequency in Korea and southern China, due to the result of the founder effect and genetic drift. the R413 P mutation, which may have originated in the regions surrounding the Baikal, expanded to northen China and Japan. We were not able to find Caucasian mutations in Korean ptiets. PKU mutations occured after racial divergence between Caucasian and Mongoloids. We observed that PKU patients with Y 204 C and R413 P mutations showed mild mild clinical phenotype but IVS4 mutation had severe mental retardation. the establishment of genotype will therefore aid in the prediction of clinical phenotypes in patients with this disease. So, pterin and DHPR measurement and DNA analsis will be useful for prognosis and proper treatment of PKU patients.
Alleles ; Biopterin ; Child ; China ; DNA* ; Founder Effect ; Genetic Drift ; Genotype ; Humans ; Intellectual Disability ; Japan ; Korea ; Leukocytes ; Levodopa ; Metabolism ; Mutation, Missense ; Neurotransmitter Agents ; Oxidoreductases ; Phenotype ; Phenylalanine ; Phenylalanine Hydroxylase ; Phenylketonurias ; Prognosis ; Recycling ; Reference Values ; Serotonin ; Tryptophan ; Tyrosine

OBJECTIVE: Computed tomographic angiography (CTA) is useful for rapid and relatively noninvasive detection of aneurysms in the circle of Willis. The purpose of this study is to compare CTA with conventional cerebral angiography (CCA) and to assess usefulness of CTA in detection of the anatomic delination of intracranial aneurysms of the circle of Willis in subarachnoid hemorrhage. PATEINTS AND METHODS: 126 consecutive patients with known SAH or suspected intracranial saccular aneurysms underwent CTA and CCA from January 2002 to June 2003. Using surface shaded display post-processing technique, CTA was interpreted for the presence, location and anatomic features of the aneurysms and also the image obtained with CTA was compared with CCA image. RESULTS: In 112 operated patients, 125 aneurysms were detected. CCA revealed 123 cerebral aneurysms and CTA revealed 113 aneurysms. Two of the 125 cerebral aneurysms were located outside of the imaging volume of CTA, 10 cases were not detected and false positive were 2 cases. The sensitivity of CTA was 90.3%. The results obtained with CTA comparing with that of CCA were almostly equal in detection of aneurysm location and delineation of aneurysmal neck. However, CTA provided a 3-dimensional representation of aneurysm and also it was very useful for surgical planning. CONCLUSION: CTA can be a diagnostic tool for the patients with acute subarachnoid hemorrge due to a ruptured aneurysm of the circle of Willis and provides adequate anatomic detail for surgical planning especially to complex cerebral aneurysms. However, it is obvious that CCA is necessary because of the limitations of CTA including its difficulty in detecting unusually located aneurysms including those in cavernous sinus or distal artery, and acquiring dynamic flow information.
Aneurysm ; Aneurysm, Ruptured ; Angiography* ; Arteries ; Cavernous Sinus ; Cerebral Angiography* ; Circle of Willis ; Humans ; Intracranial Aneurysm* ; Neck ; Subarachnoid Hemorrhage

The vascularized fibula flap, first described in 1975, was originally developed as a vascularized bone flap for extremity reconstruction. In 1989, the first experience with fibula free flap for mandibular reconstruction was published by Hidalgo. Vascularized fibula flaps have many advantages in the restoration of the contour and function of mandible. But a potential disvantages is unreliable skin paddle and the limited volume of fibula. So, we were dissected 63 Korean cadaver limbs. The aim of this study was 1) to define more clearly the anatomy of peroneal artery to fibula and lateral leg skin, specially with regard to the fibular osteocutaneous flap 2) to measure the dimensions of fibula available for dental implant placement. The results were as follows: 1. The peroneal artery arised from the posterior tibial artery in 60 cases(95.2%). But in 3 cases(4.8%), it took place of the posterior tibial artery. The peroneal artery branched off the posterior tibial artery 6.3+/-1.3cm(range 2 - 6.5cm) distal to the fibular head. 2. The musculoperiosteal and septocutaneous branches of the peroneal artery were distributed from 4/10 to 8/10 in most cases. 3. The number of nutrient foramen was one in 60 cases(95.2%). The foramen was positioned on the posterior surface in 50 cases(75.8%) The average foraminal index was 42.4+/-0.8% and its range was 30.2 to 73.3%. 4. The total length of fibula was 35.4+/-1.8 cm (range 31.0 - 39.5cm) in males and 31.3+/-1.5cm(range 28.0 - 35.0cm) in females. 5. The bone height from the base(anatomic posterior surface) to the spot at which was reduced to 6.0mm in midpoint of fibula was 12.3+/-1.8mm in males and 8.8+/-1.9mm in females.
Arteries* ; Cadaver ; Dental Implants ; Extremities ; Female ; Fibula* ; Free Tissue Flaps ; Head ; Humans ; Leg ; Male ; Mandible ; Mandibular Reconstruction ; Skin ; Tibial Arteries

As a commensal or a pathogen, Helicobacter pylori can change the balance of a complex interaction that exists among gastric epithelial cells, microbes, and their environment. Therefore, unraveling this complex relationship of these mixtures can be expected to help prevent cancer as well as troublesome unmet medical needs of H. pylori infection. Though gastric carcinogenesis is a multi-step process, precancerous lesion can be reversible in the early phase of mucosal damage before reaching the stage of no return. However, biomarkers to predict rejuvenation of precancerous atrophic gastritis have not been identified yet and gastric cancer prevention is still regarded as an impregnable fortress. However, when we take the journey from H. pylori-associated gastritis to gastric cancer, it provides us with the clue for prevention since there are two main preventive strategies: eradication and anti-inflammation. The evidence supporting the former strategy is now ongoing in Japan through a nation-wide effort to eradicate H. pylori in patients with chronic gastritis, but suboptimal apprehension to increasing H. pylori resistance to antibiotics and patient non-compliance still exists. The latter strategy has been continued in the author's research center under siTRP (short-term intervention to revert premalignant lesion) strategy. By focusing on the role of inflammation in the development of H. pylori-associated gastric carcinogenesis, this review is intended to explain the connection between inflammation and gastric cancer. Strategies on H. pylori eradication, removal of inflammation, and reverting preneoplastic lesion will also be introduced. In the end, we expect to be able to prevent gastric cancer by take a detour from the unpleasant journey, i.e. from H. pylori-associated gastritis to gastric cancer.
Animals ; Anti-Bacterial Agents/pharmacology/therapeutic use ; Biomarkers/metabolism ; Disease Models, Animal ; Gastritis/*etiology ; Helicobacter Infections/*complications/drug therapy ; Helicobacter pylori/drug effects/metabolism/physiology ; Humans ; Stomach Neoplasms/etiology/*prevention & control ; Virulence Factors/metabolism

PURPOSE: This study evaluated the effect of Rapid Streptococcal Screening Test (RSST) results on the use of antibiotics for patients with sore throat in the ER setting and the effect of education about Centor criteria for primary physicians on the use of antibiotics. METHODS: Between June 2008 and January 2009, we recruited 786 patients with sore throat who visited our emergency center. Patients were classified into 2 groups according to the RSST. Centor scores and antibiotic usage were assessed. Primary physicians were educated about Centor scoring and RSST. We analyzed the use of antibiotics to evaluate the effect of education on Centor scoring and RSST. RESULTS: RSST results significantly correlated with antibiotic usage for the RSST done on a group of patients with sore throat (p<0.001). Education of primary physicians regarding Centor scoring reduced the use of antibiotics (p<0.001) for the low risk group of patients (Centor scores<3). The use of antibiotics for the high risk group (Centor scores> or =3) was not significantly reduced (p=0.6394) after education regarding Centor criteria. CONCLUSION: The use of an RSS test and education of primary physicians will reduce the unnecessary use of antibiotics by patients and will result in appropriate use of antibiotics for patients who need antibiotics.
Anti-Bacterial Agents ; Emergencies ; Humans ; Mass Screening ; Pharyngitis ; Streptococcal Infections

With the accumulation of clinical trials demonstrating its efficacy and safety, peroral endoscopic myotomy (POEM) has emerged as a less invasive treatment option for esophageal achalasia compared with laparoscopic Heller myotomy. However, the difficulty in determining the exact extent of myotomy, a critical factor associated with the success and safety of the procedure, remains a limitation. Although the various endoscopic landmarks and ancillary techniques have been applied, none of these has been proven sufficient. As a solution for this limitation, the double-scope POEM technique with a second endoscope to assure the exact length of the submucosal tunnel has been applied since 2014. Before double-scope POEM was introduced, the second endoscope was applied only to confirm the accuracy of the procedure. In the present study, we performed double-scope POEM in the treatment of esophageal achalasia through a novel procedure of simultaneous application of the second endoscope to assist in the conventional POEM procedure.
Endoscopes ; Esophageal Achalasia*

BACKGROUND/AIMS: We evaluated whether manometric subtype is associated with treatment outcome in patients with achalasia treated by peroral endoscopic myotomy (POEM). METHODS: High-resolution manometry data and Eckardt scores were collected from 83 cases at two tertiary referral centers where POEM is performed. Manometric tracings were classified according to the three Chicago subtypes. RESULTS: Among the 83 cases, 48 type I, 24 type II, and 11 type III achalasia cases were identified. No difference was found in pre-POEM Eckardt score, basal lower esophageal sphincter (LES) pressure, or integrated relaxation pressure (IRP) among the type I, type II, and type III groups. All three patient groups showed a significant improvement in post-POEM Eckardt score (6.1±2.1 to 1.5±1.5, p=0.001; 6.8±2.2 to 1.2±0.9, p=0.001; 6.6±2.0 to 1.6±1.4, p=0.011), LES pressure (26.1±13.8 to 15.4±6.8, p=0.018; 32.3±19.0 to 19.2±10.4, p=0.003; 36.8±19.2 to 17.5±9.7, p=0.041), and 4s IRP (21.5±11.7 to 12.0±8.7, p=0.007; 24.5±14.8 to 12.0±7.6, p=0.002; 24.0±15.7 to 11.8±7.1, p=0.019) at a median follow-up of 16 months. CONCLUSIONS: POEM resulted in a good clinical outcome for all manometric subtypes.
Esophageal Achalasia* ; Esophageal Sphincter, Lower ; Follow-Up Studies ; Humans ; Manometry ; Relaxation ; Tertiary Care Centers ; Treatment Outcome

Arising from human curiosity in terms of the desire to look within the human body, endoscopy has undergone significant advances in modern medicine. Direct visualization of the gastrointestinal (GI) tract by traditional endoscopy was first introduced over 50 years ago, after which fairly rapid advancement from rigid esophagogastric scopes to flexible scopes and high definition videoscopes has occurred. In an effort towards early detection of precancerous lesions in the GI tract, several high-technology imaging scopes have been developed, including narrow band imaging, autofocus imaging, magnified endoscopy, and confocal microendoscopy. However, these modern developments have resulted in fundamental imaging technology being skewed towards red-green-blue and this technology has obscured the advantages of other endoscope techniques. In this review article, we have described the importance of image quality analysis using a survey to consider the diversity of endoscope system selection in order to better achieve diagnostic and therapeutic goals. The ultimate aims can be achieved through the adoption of modern endoscopy systems that obtain high image quality.
Endoscopes ; Endoscopes, Gastrointestinal* ; Endoscopy* ; Exploratory Behavior ; Gastrointestinal Tract ; History, Modern 1601- ; Human Body ; Humans ; Narrow Band Imaging