PURPOSE: This study was undertaken to provide the framework for development of a genetic counseling training program, and an accreditation and certification process suitable for non-M.D. genetic counselors in Korea. MATERIALS AND METHODS: Global standards of genetic counseling curriculums, training program accreditation (TPA), and the certification process for genetic counselors (CPGC) in the U.S.A and Japan were reviewed, and a questionnaire survey was performed to elicit opinions among health-care providers including physicians, nurses, technicians, researchers, and educators. In addition, input from professional communities, including the Korean Society of Medical Genetics (KSMG) and Institute for Genetic Testing Evaluation, was sought in formulating the framework of this study. RESULTS: Comparison of U.S.A. and Japan educational systems showed similarities in curriculum, accreditation, and certification programs. Analysis of 117 respondents opinions showed a high level of agreement in the area of global standards; 88% indicated that KSMG should be in charge of TPA and CPGC, while 77% favored a certification exam composed of both written exam and interview components. CONCLUSION: Based upon this study we propose that the KSMG should be in charge of providing the TPA and CPGC for non-MD genetic counselors. Requirements for the entrance to a Master's degree genetic counseling program should be open to successful four year undergraduate students in all areas, provided the candidates demonstrate the abilities to master the graduate level of study in human genetics, clinical genetics, statistics, psychology, and other required subjects. Eligibility for certification should include qualified candidates of genetic counseling with no formally approved education, but a sufficient amount of clinical experience, in addition to accredited program graduates. Certification examinations should be carried out every two years and the certification should be good for five years, as is the case in Japan.
Accreditation ; Certification ; Counseling ; Curriculum ; Surveys and Questionnaires ; Fees and Charges ; Genetic Counseling ; Genetic Testing ; Genetics, Medical ; Humans ; Japan ; Korea

OBJECTIVES: To assess the clinical efficacy and safety of Hyruan(sodium hyaluronate) in patients with osteoarthritis of the knee. METHODS: A 12-week open study of Hyruan was conducted in 48 patients with osteoarthritis(OA) of the knee. Hyruan was injected into knee joints weekly for 5 weeks. Clinical evaluations were performed using visual analog scale(VAS) for pain, Lequesne's index, tenderness and swollen joint counts weekly for the first 5 weeks and then monthly up to 3 months post-injection. RESULTS: Significant improvements in VAS, Lequesne's index, tenderness and swollen joint counts were noted from the first week and maintained until the end of 3 month follow-up period. At 3 months post-injection, 68.8% of patients had >20mm reduction in the VAS. The patients with Kellgren stage lIl showed significant response in VAS and Lequesne's index as patients with Kellgren stage I and II. The clinical improvement after treatment was slower in patients(n=16) with late(>5 years) OA than in patients(n=32) with early(<5 years) OA, but it was statistically significant in either groups, compared to baseline. There were no severe adverse reactions to Hyruan therapy and laboratory examinations revealed no evidence of toxicity. CONCLUSION: Hyruan has been shown to be effective and safe in the treatment of patients with osteoarthritis of the knee.
Follow-Up Studies ; Humans ; Hyaluronic Acid ; Joints ; Knee Joint ; Knee* ; Osteoarthritis*

BACKGROUND: Iron deficiency still remains the most common single nutrient deficiency disorder in the world, especially among young children and adolescent girls. As little is recently known about iron deficiency in infants and preschool children in Korea, this study is aimed to determine the prevalence of iron deficiency in healthy population and to determine the proportion of children in whom iron deficiency goes undetected using the current screening technique. METHODS: We collected venous samples from 410 apparently healthy preschool children during March to June, 1997, as a part of a regular health check-up program. We measured hemoglobin, hematocrit, mean corpuscular volume(MCV), mean corpuscular hemoglobin(MCH), serum ferritin, serum iron, and total iron binding capacity(TIBC). RESULTS: A total of 410 infants and preschool children aged 1~6 years were included in this study. The prevalence of anemia was 7.9%(3/38) in infants and children aged 1~2 years, 6.3%(12/190) in 3~4 years and 1.6%(3/182) in 5~6 years. The prevalence of iron deficiency(ferritin <10 ng/mL or transferrin saturation <10%) was 31.6%(12/38) in 1~2 years, 23.7%(45/190) in 3~4 years and 14.3%(26/182) in 5~6 years. The prevalence of IDA was 5.3% (2/38) in 1~2 years, 1.1% (2/190) in 3~4 years and 0.5%(1/182) in 5~6 years. Microcytic anemia was found in only 2 cases, both of which is included in 1~2 years of age. CONCLUSION: The prevalence of iron deficiency and IDA was relatively high in 1~2 years of age, critical period for neurologic development. Nutritional education including iron fortification for mothers having caring babies especially of this age group should be warranted.
Adolescent ; Anemia ; Anemia, Iron-Deficiency ; Child ; Child, Preschool* ; Critical Period (Psychology) ; Education ; Female ; Ferritins ; Hematocrit ; Humans ; Infant ; Iron* ; Korea ; Mass Screening ; Mothers ; Prevalence* ; Transferrin

BACKGROUND/AIMS: To investigate the rate of detection of monosodium urate (MSU) crystals in the synovial fluid (SF) of patients with acute gouty arthritis and factors associated with false-negative results. METHODS: A total of 179 patients with acute gouty arthritis who had undergone SF crystal examination were identified from the data warehouse of two university hospitals. Clinical and laboratory data were obtained from the medical records. RESULTS: The overall rate of detection of MSU crystals was 78.8%. In univariate analyses, the only significant differences between the variables of crystal-negative and crystal-positive patients were a lower C-reactive protein level (p = 0.040) and fewer patients undergoing emergent surgery in the crystal-positive group (p = 4.5 x 10(-6)). In logistic regression analyses, MSU crystal-negative results were significantly associated with the interval from arthritis onset to crystal examination (p = 0.042), and this was the most significant risk factor for arthroscopic surgery (p = 2.1 x 10(-4)). Seventeen patients who underwent arthroscopic surgery had a significantly longer hospital stay (p = 0.007) and a significant delay in gout treatment (p = 8.74 x 10(-5)). The distribution of crystal-negative patients differed significantly between the SF samples that were evaluated by both the laboratory medicine and the rheumatology departments (p = 1.2 x 10(-14)), and the kappa value was 0.108. CONCLUSIONS: Although several clinical features were associated with detection failure, SF MSU crystal identification was critically dependent on the observer. Considering the impact on the treatment outcomes, implementation of a quality control program is essential.
Acute Disease ; Aged ; Arthritis, Gouty/diagnosis/*metabolism/*surgery ; Arthroscopy ; Biological Markers/metabolism ; Crystallization ; False Negative Reactions ; Female ; Hospitals, University ; Humans ; Length of Stay ; Logistic Models ; Male ; Microscopy, Polarization ; Middle Aged ; Observer Variation ; Predictive Value of Tests ; Reproducibility of Results ; Republic of Korea ; Retrospective Studies ; Synovial Fluid/*metabolism ; Time Factors ; Time-to-Treatment ; Treatment Outcome ; Uric Acid/*metabolism

BACKGROUND/AIMS: This study aimed to investigate the inf luence of poor sleep quality on clinical features of primary Sjögren’s syndrome (pSS). METHODS: Sleep quality was cross-sectionally assessed using the Pittsburgh Sleep Quality Index (PSQI), and demographic, clinical, and laboratory data were collected from 115 Korean patients with pSS. The patients completed questionnaires on the European League Against Rheumatism (EULAR) SS Patient Reported Index (ESSPRI), quality of life (EuroQOL five dimensions questionnaire [EQ-5D]), fatigue (fatigue severity score [FSS]), and depression (Beck Depression Inventory [BDI] II]). Symptoms and patient global assessment (PGA) were evaluated with a 100-mm visual analogue scale (VAS). The EULAR sicca score (ESS), ESSPRI, and EULAR SS Disease Activity Index (ESSDAI) were calculated at study enrollment. RESULTS: Fifty-three patients (46.1%) had poor sleep quality and 32.4% of 71 patients without depression were poor sleepers. Poor sleepers had a significantly lower EQ-5D or ESSDAI and a significantly higher FSS, BDI-II, PGA, ESS, ESSPRI, or VAS scores for extra-glandular symptoms than good sleepers. Neutrophil and lymphocyte counts were significantly higher and immunoglobulin G levels tended to decrease in poor sleepers. Additionally, PSQI was negatively correlated with EQ-5D and ESSDAI and positively with ESS, FSS, BDI-II, PGA, VAS scores for their symptoms, and ESSPRI. Multivariate analysis revealed that poor sleep quality remained the independent determinants of the unsatisfactory symptom state (ESSPRI ≥ 5). CONCLUSIONS Our results showed that poor sleep quality could significantly affect the patient-oriented outcomes and physician-reported activity index of pSS patients through the various effects of sleep quality on the psychological or somatic symptoms and the immune system.

Inflammatory fibroid polyp is a polypoid lesion of the gastrointestinal tract, composed of fibrous tissue, blood vessels, and inflammatory infiltration often dominated by eosinophilic leukocytes. It is infrequent, localized, and non-neoplastic condition. It is most often formed in the gastric antrum and ileum, and rarely in the esophagus, small bowel or colon. The polyp in the stomach is mainly located in the submucosa of the antrum, and may cause intermittent epigastric pain, vomiting, antral obstructive symptoms or rarely bleeding. When present in small bowel, it is usually localized in the ileum and presents with obstructive symptoms but clincal manifestations are different according to the location. Intussusception resulting from the mass is not common. We report a case of inflammatory fibroid polyp of the cecum causing intussusception. A 42-year-old male patient was referred to the hospital for the evaluation of right lower quadrant abdominal pain and palpable mass. A contrast-enhanced CT scan of the whole abdomen and colonoscopic examination revealed intussusception with a cecal mass. Inflammatory fibroid polyp causing intussusception was histologically confirmed by surgical wedge resection.
Abdomen ; Abdominal Pain ; Adult ; Blood Vessels ; Cecum* ; Colon ; Eosinophils ; Esophagus ; Gastrointestinal Tract ; Hemorrhage ; Humans ; Ileum ; Intussusception* ; Leiomyoma* ; Leukocytes ; Male ; Polyps* ; Pyloric Antrum ; Stomach ; Tomography, X-Ray Computed ; Vomiting

BACKGROUND/AIMS: To evaluate changes in gut microbiota composition following long-term proton pump inhibitor (PPI) treatment. METHODS: Twenty-four-week-old F344 rats were fed diets with (n=6) or without (n=5) lansoprazole for 50 weeks. Profiles of luminal microbiota in the terminal ileum were then analyzed. Pyrosequencing of the 16S rRNA gene was performed using an FLX genome sequencer (454 Life Sciences/Roche). RESULTS: Rats treated with lansoprazole showed significantly reduced body weights compared to controls (lansoprazole-treated rats and controls, 322.3±15.3 g vs 403.2±5.2 g, respectively, p<0.001). However, stool frequencies and consistencies did not differ between the two groups. The composition of the gut microbiota in lansoprazole-treated rats was quite different from that of the controls. In the controls, the microbiota profiles obtained from the terminal ileum showed a predominance of Proteobacteria (93.9%) due to the abundance of Escherichia and Pasteurella genera. Conversely, lansoprazole-treated rats showed an elevated population of Firmicutes (66.9%), which was attributed to an increased ratio of Clostridium g4 to Lactobacillus genera. CONCLUSIONS: This preliminary study suggests that long-term administration of PPI may cause weight loss and changes to the microbiota in the terminal ileum.
Animals ; Body Weight ; Clostridium ; Diet ; Escherichia ; Firmicutes ; Gastrointestinal Microbiome* ; Genes, rRNA ; Genome ; Ileum ; Lactobacillus ; Lansoprazole ; Microbiota ; Pasteurella ; Phenobarbital ; Pilot Projects* ; Proteobacteria ; Proton Pump Inhibitors ; Proton Pumps* ; Protons* ; Rats ; Rats, Inbred F344* ; Weight Loss

BACKGROUND/AIMS: To evaluate changes in gut microbiota composition following long-term proton pump inhibitor (PPI) treatment. METHODS: Twenty-four-week-old F344 rats were fed diets with (n=6) or without (n=5) lansoprazole for 50 weeks. Profiles of luminal microbiota in the terminal ileum were then analyzed. Pyrosequencing of the 16S rRNA gene was performed using an FLX genome sequencer (454 Life Sciences/Roche). RESULTS: Rats treated with lansoprazole showed significantly reduced body weights compared to controls (lansoprazole-treated rats and controls, 322.3±15.3 g vs 403.2±5.2 g, respectively, p<0.001). However, stool frequencies and consistencies did not differ between the two groups. The composition of the gut microbiota in lansoprazole-treated rats was quite different from that of the controls. In the controls, the microbiota profiles obtained from the terminal ileum showed a predominance of Proteobacteria (93.9%) due to the abundance of Escherichia and Pasteurella genera. Conversely, lansoprazole-treated rats showed an elevated population of Firmicutes (66.9%), which was attributed to an increased ratio of Clostridium g4 to Lactobacillus genera. CONCLUSIONS: This preliminary study suggests that long-term administration of PPI may cause weight loss and changes to the microbiota in the terminal ileum.
Animals ; Body Weight ; Clostridium ; Diet ; Escherichia ; Firmicutes ; Gastrointestinal Microbiome* ; Genes, rRNA ; Genome ; Ileum ; Lactobacillus ; Lansoprazole ; Microbiota ; Pasteurella ; Phenobarbital ; Pilot Projects* ; Proteobacteria ; Proton Pump Inhibitors ; Proton Pumps* ; Protons* ; Rats ; Rats, Inbred F344* ; Weight Loss

PURPOSE: To evaluate the usefulness of various radiographic imaging modalities in the diagnosis and characterization of melorheostosis. MATERIALS AND METHODS: We retrospectively evaluated the plain film (n=8), computed tomographic (CT) imaging (n=5) and magnetic resonance (MR) imaging (n=5) findings of eight patients with melorheostosis diagnosed by bone biopsy (n=4) and characteristic radiographic findings (n=8). MR images were obtained with a 1.5-T scanner focused on the region of maximal radiographic abnormality. Pulse sequences include T1-weighted SE, T2-weighted fast SE (n=5) and postcontrast imaging (n=4). In order to define subtle enhancement of the lesions, subtraction MR images were obtained in one case. Imaging findings were analyzed with particular emphasis on the distribution of lesions along the sclerotome, differential radiographic findings between diaphyseal and metaepiphyseal lesions of the long bones, as seen on plain radiographs, and the density and signal characteristics of hyperostotic, lesions, as seen on CT and MR images. RESULTS: Characteristic distribution along the sclerotome was identified in five of eight cases mainly along C6 and 7 (n=2) and L3, 4 and 5 (n=3) sclerotomes. In diaphyseal melorherostosis (8/8), a characteristic finding, i.e., a wax flowing down from the candle, was identified on plain radiographs. In all three patients with metaepiphyseal melorheostosis (3/8), multiple round or oval hyperostotic lesions were seen in the epiphysis and metaphysis of the long bones. On CT, the marrow cavity was partly obliterated by hyperostotic lesions in all five patients with endosteal hyperostosis. Among these, central ground glass opacity with a sclerotic rim was seen in three patients. Periosteal hyperostosis was seen in two of five cases, being visualized as irregular excrescences in the periosteal region and surrounding soft tissue. Individual hyperostosis was visualized as hypointense on T1-weighted images and as a hyperintense center with a surrounding hypointense rim on T2-weighted images (5/5). On postcontrast images, central enhancement was noted in all four cases. In one of these, in which the degree of central enhancement was subtle, subtraction images (postcontrast SE- precontrast SE) also revealed a central signal increment. Central enhancement corresponded to the hyperintense center seen on T2-weighted images (4/4) and the ground-glass opacity seen on CT (2/2). CONCLUSION: Radiographic imaging plays a crucial role in the diagnosis of melorheostosis. The future role of gadolinium-enhanced MR imaging in the characterization of the lesion may be important though further evaluation and pathologic correlation is required.
Biopsy ; Bone Marrow ; Diagnosis ; Epiphyses ; Glass ; Humans ; Hyperostosis ; Magnetic Resonance Imaging* ; Melorheostosis* ; Retrospective Studies

BACKGROUND AND PURPOSE: There are three distinct subtypes of primary progressive aphasia (PPA): the nonfluent/agrammatic variant (nfvPPA), the semantic variant (svPPA), and the logopenic variant (lvPPA). We sought to characterize the pattern of [¹⁸F]-THK5351 retention across all three subtypes and determine the topography of [¹⁸F]-THK5351 retention correlated with each neurolinguistic score. METHODS: We enrolled 50 participants, comprising 13 PPA patients (3 nfvPPA, 5 svPPA, and 5 lvPPA) and 37 subjects with normal cognition (NC) who underwent 3.0-tesla magnetic resonance imaging, [¹⁸F]-THK5351 positron-emission tomography scans, and detailed neuropsychological tests. The PPA patients additionally participated in extensive neurolinguistic tests. Voxel-wise and region-of-interest-based analyses were performed to analyze [¹⁸F]-THK5351 retention. RESULTS: The nfvPPA patients exhibited higher [¹⁸F]-THK5351 retention in the the left inferior frontal and precentral gyri. In svPPA patients, [¹⁸F]-THK5351 retention was elevated in the anteroinferior and lateral temporal cortices compared to the NC group (left>right). The lvPPA patients exhibited predominant [¹⁸F]-THK5351 retention in the inferior parietal, lateral temporal, and dorsolateral prefrontal cortices, and the precuneus (left>right). [¹⁸F]-THK5351 retention in the left inferior frontal area was associated with lower fluency scores. Comprehension was correlated with [¹⁸F]-THK5351 retention in the left temporal cortices. Repetition was associated with [¹⁸F]-THK5351 retention in the left inferior parietal and posterior temporal areas, while naming difficulty was correlated with retention in the left fusiform and temporal cortices. CONCLUSIONS: The pattern of [¹⁸F]-THK5351 retention was well matched with clinical and radiological findings for each PPA subtype, in agreement with the anatomical and functional location of each language domain.
Aphasia, Primary Progressive ; Cognition ; Comprehension ; Humans ; Magnetic Resonance Imaging ; Neurofibrillary Tangles ; Neuropsychological Tests ; Parietal Lobe ; Positron-Emission Tomography ; Prefrontal Cortex ; Rabeprazole ; Semantics ; Temporal Lobe