Amyloidosis which represents neuropathy due to the systematic amyloid fibril deposits has two types; the non-hereditary primary amyloid polyneuropathy (PAP) and the familial amyloidotic polyneuropathy (FAP). The clinical manifestations of the two diseases are similar, but the FAP is an autosomal dominant disease and has better prognosis than the PAP. The PAP is a rare disease which displays relatively rapid progress and severe hypoalbum-inemia. We report a 50-year-old male patient admitted due to weight loss, orthostatic hypotension, and the unique sensory changes which pain and temperature sensations are decreased on the periumbilical area and lower extremity. The patient shows severe proteinuria, hypoalbuminemia and generalized edema. There are definite amyloid deposits in the biopsied sural nerve in the light and polarizing microscope and amyloid fibrils in the electron microscope. But no abnormality of transthyretin gene is found in this patient and one cousin. The transthyretin DNA analysis is useful for the differential diagnosis of PAP and FAP.
Amyloid Neuropathies* ; Amyloid* ; Amyloidosis ; Diagnosis, Differential ; DNA ; Edema ; Humans ; Hypoalbuminemia ; Hypotension, Orthostatic ; Lower Extremity ; Male ; Middle Aged ; Plaque, Amyloid ; Polyneuropathies ; Prealbumin ; Prognosis ; Proteinuria ; Rare Diseases ; Sensation ; Sural Nerve ; Weight Loss

Foreign body ingestion is commonly encountered by otolaryngologists. Most foreign bodies in the upper airway can be easily removed via direct endoscopy; however, if they penetrate the soft tissue deeply, both localization and retrieval may be challenging. Here, we report on the successful removal of multiple sewing needles from the throat using intraoperative, real-time C-arm fluoroscopy to guide endoscopic extraction. The use of intraoperative, real time C-arm fluoroscopy to guide endoscopic extraction allowed quick, safe treatment and avoided any development of complications in our patient.

BACKGROUND: A spectrophotometric approach to minimum inhibitory concentration (MIC) determination for filamentous fungi may provide an objective and rapid MIC reading, and quantify the hyphal growth of molds. In this study, we evaluated two spectrophotometric broth microdilution methods (SBM) to determine amphotericin B and itraconazole MICs for Aspergillus species isolated from clinical specimens. METHODS: A total of 80 clinical isolates (20 A. fumigatus, 20 A. flavus, 18 A. niger, 20 A. terreus, and 2 A. nidulans) were tested for amphotericin B and itraconazole susceptibility by the broth microdilution method. The MIC endpoint was calculated by the spectrophotometer with microplate reader (SBM-Spec method) or colorimetric XTT (tetrazolium dye) method (SBM-XTT method). The results of the SBM method were compared with those of NCCLS M38-A broth microdilution method. RESULTS: The MICs of amphotericin B by the NCCLS M38-A method ranged from 0.125 to 8 g/mL, and those of itraconazole ranged from 0.25 to 2micrograms/mL. The agreement of SBM-Spec and SBM-XTT methods within one dilution of the NCCLS M38 reference were 98.8% and 96.3% for the ampho-tericin B, and 98.8% and 100% for itraconazole, respectively. The agreements between SBM-Spec and SBM-XTT methods were 97.5% for amphotericin B and 98.8% for itraconazole. CONCLUSIONS: In antifungal susceptibility testing of Aspergillus species, the SBM method includ-ing SBM-Spec and SBM-XTT methods showed high levels of agreements with the NCCLS M38-A method. The SBM methods can be useful in the clinical laboratory.
Amphotericin B ; Aspergillus* ; Fungi ; Itraconazole ; Microbial Sensitivity Tests ; Niger

BACKGROUND: Our study group established "3H care" in 2002. The meaning of "3H care" attain and maintain adequate controls over hypertension, hyperlipidemia, and hyperglycemia in type 2 diabetic patients. This study evaluated the achievement of target goals after one year or more of "3H care" by specialists in our diabetic clinic. METHODS: This was a retrospective study of 200 type 2 diabetic patients who received "3H care" for one year or more in our diabetic clinic. We evaluated achievement of target goals for metabolic controls as suggested by the American Diabetes Association. RESULTS: Overall, 200 type 2 diabetes patients were enrolled, of whom 106 were males (53%) and 94 were females (47%). After one year of "3H care," the mean HbA1c was 7.2+/-1.5% and the percentage of patients achieving glycemic control (HbA1c <7%) was 51.8%. However only 32.2% of hypertensive patients achieved the recommended target. After one year of "3H care," the percentages of those who achieved the target value for dyslipidemia were 80.0% for total cholesterol, 66.3% for low density lipoprotein cholesterol, 57.9% for triglyceride, and 51.8% for high density lipoprotein cholesterol. The percentage that achieved all three targets level was only 4.4% after one year and 14.8% after two years. CONCLUSION: The results of this study demonstrate that only a minor proportion of patients with type 2 diabetes achieved the recommended goals despite the implementation of "3H care." It is our suggestion that better treatment strategies and methods should be used to control hypertension, hyperlipidemia and hyperglycemia.
Achievement ; Cholesterol ; Cholesterol, HDL ; Cholesterol, LDL ; Diabetes Mellitus, Type 2 ; Disease Management ; Dyslipidemias ; Female ; Humans ; Hyperglycemia ; Hyperlipidemias ; Hypertension ; Lipoproteins ; Male ; Retrospective Studies ; Specialization ; Treatment Outcome

BACKGROUND: The epidemiology of Candida parapsilosis is still undefined and may involve sources such as hospital environment and hands of healthcare workers (HCWs). We performed molecular typing of C. parapsilosis isolates from intensive care unit (ICU) patients and to compare these with isolates from ICU HCWs. METHODS: A total of 57 C. parapsilosis strains including isolates from blood (n=20) and central venous catheter (n=14) of patients and isolates from hands of HCWs (n=23) were analyzed. All the isolates were collected from candidemic patients (n=20) and HCWs (n= 18) of two ICUs during January 1999 to December 2000. Pulsed-field gel electrophoresis (PFGE) analysis were performed by electrophoretic karyotyping and restriction endonuclease analysis of genomic DNA using SfiI. RESULTS: PFGE separated 57 isolates into 37 distinct types. For bloodstream isolates, a total of 18 different DNA types were identified among 20 isolates from 20 .patients: two strain types (K1 and K13) were shared by four isolates from four patients. The catheter strains from each patient exhibited the same PFGE pattern with bloodstream isolates. Of 23 strains from 18 HCWs, a total of 20 different DNA types were identified: 3 strain types shared by 6 isolates from 6 HCWs. Only one of the PFGE types of the HCWs was shared with patient isolates; an isolate with the same K13 pattern as isolates of two patients was found the hands of HCW. CONCLUSION: This suggest that although C. parapsilosis isolates have a high level of genetic diversity, nosocomial transmission may occur among ICU patients and HCWs via hands.
Candida* ; Candidemia ; Catheters ; Central Venous Catheters ; Delivery of Health Care* ; DNA ; DNA Restriction Enzymes ; Electrophoresis, Gel, Pulsed-Field* ; Epidemiology ; Genetic Variation ; Hand ; Humans ; Intensive Care Units ; Karyotyping ; Molecular Typing*

BACKGROUND: Cis-AB is a rare blood ABO with unusual inheritance on the same chromosome that result from a point mutation. It is relatively common in Korean and Japanese populations. We analyzed serological and molecular genetic characteristics of the family with cis-AB who had visited Chonnam National University Hospital (CNUH) for 10 years. MATERIAL AND METHODS: The subjects of this study comprised 88 samples derived from cis-AB family of 17 propositi with A2B3 phenotype diagnosed at CNUH between January 1993 and May 2002. Serologic tests for cis-AB were performed in detail on the ABO antigens of 49 samples, polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method for cis-AB genotyping was additionally performed in peripheral blood DNA samples from 19 cases. RESULTS: The phenotypes of 49 cases were composed of 39 cases of A2B3, 7 of A2B, 2 of A1B3 and 1 of A1. ABO genotype on the blood samples from 19 cis-AB cases showed 11 cases of cis-AB/O with phenotype A2B3, 6 of cis-AB/B with phenotype A2B, 1 of cis-AB/A with phenotype A1B3 and 1 of cis-AB/A with phenotype A1. CONCLUSIONS: These data demonstrated that the most frequent type of cis-AB cases in Chonnam area was cis-AB/O with phenotype A2B3 and a case of cis-AB/A with unusual A1 phenotype was found.
Asian Continental Ancestry Group ; DNA ; Genotype* ; Humans ; Jeollanam-do* ; Molecular Biology ; Phenotype* ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Serologic Tests ; Wills

Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it has been associated with an increased risk of breast cancer. Herein we describe a family with two women affected by both NF1 and early-onset breast cancer. We evaluated whether the concomitance of NF1 and early-onset breast cancer could be due to disease-causing mutations in both NF1 and BRCA1 gene in a Korean family with clinical features of both NF1 and hereditary breast cancer. Mutation analyses identified nonsense mutations in NF1 and BRCA1 genes. Our findings indicate that an awareness of the possible concomitance of NF1 and BRCA1 gene mutations is important for identifying the genetic origin of early-onset breast cancer in patients with NF1 to achieve early detection of cancers and decrease breast cancer-associated morbidity and mortality in these patients.
Breast ; Breast Neoplasms* ; Codon, Nonsense ; Female ; Genes, BRCA1 ; Genes, Neurofibromatosis 1 ; Germ-Line Mutation* ; Humans ; Mortality ; Neurofibromatosis 1* ; Neurofibromin 1

Eosinophilic granulomatosis with polyangiitis (EGPA, also known as the Churg-Strauss syndrome) is a disorder characterized by asthma, peripheral eosinophilia and systemic vasculitis. It rarely occurs in children, so that physicians may frequently mistake it for a simple uncontrolled asthma. Since a subsequent cardiac involvement is critical for the prognosis, it is important to suspect EGPA in children with severe, uncontrolled asthma. The cardiac manifestations in EGPA are variable from asymptomatic electrocardiogram abnormalities to pericarditis with pericardial effusion, myocarditis with cardiomyopathy, heart failure, and sudden cardiac death. Although delayed treatment may lead to fatal cardiac complications in EGPA, adequate immune suppression can reverse cardiac impairment. We report a 14-year-old girl with persistent asthma refractory to steroids who was eventually diagnosed with an anti-neutrophil cytoplasmic antibody-negative EGPA.
Adolescent ; Asthma ; Cardiomyopathies ; Child ; Churg-Strauss Syndrome ; Cytoplasm ; Death, Sudden, Cardiac ; Electrocardiography ; Eosinophilia ; Eosinophils ; Female ; Granulomatosis with Polyangiitis ; Heart Failure ; Heart ; Humans ; Myocarditis ; Pericardial Effusion ; Pericarditis ; Prognosis ; Steroids ; Systemic Vasculitis

Background and Objectives: Endoscopic prelacrimal recess approach (PLRA) was introduced to treat maxillary sinus inverted papilloma (IP) without sacrificing the inferior turbinate and nasolacrimal duct. This study aimed to compare surgical outcomes of prelacrimal recess approach with the conventional Caldwell-Luc approach (CLA) to remove IP of maxillary sinus and to evaluate the usefulness of the PLRA.Subjects and Method We retrospectively reviewed medical records of 51 patients who were treated in our institution for IP of nasal cavity and sinuses between March 2010 and June 2019. Twenty patients had maxillary sinus IP. Sixteen patients underwent endoscopic sinus surgery combined with either CLA (n=8) or PLRA (n=8). Demographic data, surgical technique, site of IP origin, intra- and postoperative complications, duration of follow-up, recurrence rate and pathologic diagnosis were reviewed. Results: IP was the pathologic diagnosis for all 16 cases. Gross total removal was achieved in all cases. The mean follow-up period was 20.1 months in CLA group and 12.5 months in PLRA group. There was one case of massive bleeding during operation requiring transfusion and postoperative ICU care in CLA group. On postoperative follow-up, two patients from the CLA group had recurrence during the follow-up period. One patient had numbness around the gingival area, another patient had transient wound dehiscence, and another had persistent oro-antral fistula. In PLRA group, one patient had periorbital swelling after blowing nose; otherwise, no other patient from the PLRA group developed subjective complaints after surgery. Conclusion Endoscopic prelacrimal recess approach showed lower complication rates and recurrence rates compared to CLA. PLRA is a safe and effective method for the excision of primary maxillary sinus IP.

BACKGROUND/AIMS: The dose of mycophenolate mofetil (MMF) has been reduced in Asia due to side effects associated with the conventional fixed dose of 2-3 g/day. We aimed to determine the pharmacokinetics of a reduced dose of MMF and to validate its feasibility in combination with tacrolimus in living-donor liver transplantation (LDLT). METHODS: Two sequential studies were performed in adult LDLT between October 2009 and 2011. First, we performed a prospective pharmacokinetic study in 15 recipients. We measured the area under the curve from 0 to 12 hours (AUC0-12) for mycophenolic acid at postoperative days 7 and 14, and we performed a protocol biopsy before discharge. Second, among 215 recipients, we reviewed 74 patients who were initially administered a reduced dose of MMF (1.0 g/day) with tacrolimus (trough, 8-12 ng/mL during the first month, and 5-8 ng/mL thereafter), with a 1-year follow-up. We performed protocol biopsies at 2 weeks and 1 year post-LDLT. RESULTS: In the first part of study, AUC0-12 was less than 30 mgh/L in 93.3% of cases. In the second, validating study, 41.9% of the recipients needed dose reduction or cessation due to side effects within the first year after LDLT. At 12 months post-LDLT, 17.6% of the recipients were administered a lower dose of MMF (0.5 g/day), and 16.2% needed permanent cessation due to side effects. The 1- and 12-month rejection-free survival rates were 98.6% and 97.3%, respectively. CONCLUSIONS: A reduced dose of MMF was associated with low blood levels compared to the existing recommended therapeutic range. However, reducing the dose of MMF combined with a low level of tacrolimus was feasible clinically, with an excellent short-term outcome in LDLT.
Adult ; Aged ; Area Under Curve ; Drug Therapy, Combination ; Female ; Follow-Up Studies ; Gastrointestinal Diseases/etiology ; Graft Rejection/prevention & control ; Humans ; Immunosuppressive Agents/blood/*pharmacokinetics ; Leukopenia/etiology ; Liver/pathology ; Liver Failure/*therapy ; *Liver Transplantation ; Male ; Middle Aged ; Mycophenolic Acid/adverse effects/*analogs & derivatives/blood/pharmacokinetics ; ROC Curve ; Retrospective Studies ; Tacrolimus/therapeutic use ; Tissue Donors