Berardinelli lipodystrophy syndrome is a rare autosomal recessive disorder, characterized by loss of body fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, hyperlipidemia, insulin resistant diabetes, and elevated metabolic rate. The mechanism(s) responsible for these abnormalities is not known. We report a forteen-month old girl with Berardinelli Lipodystriphy Syndrome, who had signs above mentioned, with a brief review and its related literatures.
Acanthosis Nigricans ; Adipose Tissue ; Female ; Hepatomegaly ; Humans ; Hyperlipidemias ; Hypertrophy ; Insulin ; Lipodystrophy*

Carcinogens ; Cytochrome P-450 CYP1A1 ; Cytochrome P-450 CYP2E1 ; Cytochrome P-450 Enzyme System ; Cytochromes ; DNA Repair ; Exons ; Genes, Suppressor ; Genetic Predisposition to Disease ; Genotype ; Head and Neck Neoplasms ; Head ; Humans ; Metabolism ; Neck ; Negotiating ; Oncogenes ; Polymorphism, Genetic ; Xenobiotics

BACKGROUND: Following several decades of decline, the incidence of tuberculosis has recently begun to increase in many countries and the control of this disease has been impeded by the emergence of multi-drug resistant tuberculosis (MDR-TB). The development of rapid diagnostic methods and effective new drugs are needed to control MDR-TB. One of the new drugs for MDR-TB is rifabutin (RBU) which has been known to be effective in some patients with MDR-TB. A few reports showed that some types of mutaitions of the rpoB gene, which were known to be present in 96-98% of rifampicin-resistant M. tuberculosis, were associated with the rifampicin-resistant but RBU-susceptible phenotype. This study was performed to investigate the correlation between RBU susceptibility and the patterns of rpoB gene mutations in Korean MDR-TB. METHODS: Sixty-five clinical isolates of multi-drug resistant Mycobacterium tuberculosis, gathered from patients two visited the Asan Medical Center from July 1997 to June 1999, were investigated. Clinical responses to rifabutin-containing regimen were evaluated. An RBU susceptibility test and sequencing analysis of rpoB gene were performed, and the result were analyzed to confirm which mutations correlated with RBU-susceptible MDR-TB. RESULTS: Fifty-three of 56 (95%) clinical isolates of MDR-TB had 60 mutations of the rpoB gene. The most frequent mutations were found at codon 531 (43%), and two mutations were combined in seven clinical isolates. Five of 53 (10%) clinical isolates showed the RBU-susceptible phenotype, and in them the characteristic patterns of point mutations were found at codon 509, 516, and 526. CONCLUSION: The frequency and pattern of mutations of the rpoB gene of Korean MDR-Tb isolates were similar to those in western countries, where the prevalence of tuberculosis is low, but some show RBU-susceptible phenotypes. RBU-susceptible MDR-TB isolates showed the characteristic pattern of mutations of the rpoB gene which could be used to rapidly diagnose RBU susceptibility.
Chungcheongnam-do ; Codon ; Humans ; Incidence ; Mycobacterium tuberculosis* ; Mycobacterium* ; Phenotype ; Point Mutation ; Prevalence ; Rifabutin* ; Tuberculosis ; Tuberculosis, Multidrug-Resistant

The present study was undertaken to observe the pathologic changes of the liver in albino rats with Clonorchis sinensis. Twenty five rats given 50 metacercariae respectively by mouth were autopsied at 3 days (group 1), one week (group 2), 4 weeks (group 3), 8 weeks (group 4) and 12 weeks (group 5) of infection. The following results were obtained: Parasites were seen in bile ducts of group 2, 3, 4, 5 and increased in number with duration of infection. The pathologic changes in the liver were prominent in intrahepatic bile ducts. Epithelial cells of bile ducts showed definite atypia and proliferation resulting in pseudostratification in group. Stratification of metaplastic squamous cells and glandular proliferation were prominent in group 3. The epithelial cells were keratinized with syncitium and cribriform formation in group 4 and almost suggestive of adenomatous hyperplasia in group 5. Periductal fibrosis seen in group 4 was considerable as well as mature with hyalinized connective tissue in group 5. Heavy inflammatory cell infiltrations around the affected bile ducts in group 1 became smaller in number with duration of infection. The inflammatory cells consisted of the majority of eosinophils in group 1 and chiefly plasma cells, lymphocytes and mononuclear cells in group 5. Veins in portal spaces dilated markedly in group 1 became less prominent with duration of infection. Although portal fibrosis increased definitely in group 3 often extended into the hepatic lobules in group 4, the changes of hepatic cells, sinusoids and central veins were negligible. Above results suggest that clonorchiasis could be a factor in inducing primary carcinoma of liver in albino rats.
parasitology-helminth-trematoda ; Clonorchis sinensis-clonorchiasis ; pathology ; histology ; liver ; rat ; eosinophil ; plasma cell ; lymphocyte ; mononuclear cell ; carcinoma

No abstract available.
Child* ; Humans ; Proteinuria*

PURPOSE:In idiopathic central precocious puberty(CPP), characterized by premature but otherwise normal puberty, the early onset of the pubertal growth spurt with increased height velocity results in premature epiphyseal closure with reduced final height. We examined the growth and growth-determining factors in female patients with CPP treated with a long-acting luteinizing hormone-releasing hormone analogue(Tryptorelin). METHODS:Ten female patients who were diagnosed as idiopathic precocious puberty were treated with Tryptorelin(0.06mg/kg, IM every 4 weeks) for 2 years. We evaluated the patients into two groups(Group A, 4 cases, predicted adult height before treatment were less than 150cm; Group B, 6 cases, predicted adult height before treatment were 150cm or greater), and analysed the growth and its determing factors. RESULTS:In total patients, the growth velocity during the second year were decreased to 4.1+/-1.9 from 5.7+/-2.2/yr during the first year(p>0.05) and no significant difference was found in predicted adult height(PAH) before and after 2 years of treatment(152.3+/-6.7 vs. 1453.9+/-6.8cm). The difference between the PAH before and after 2 years of treatment was not correlated with age, bone age, PAH, height standard deviation score(Ht SDS) before treatment, but correlated with difference between the PAH before and after 1 year of treatment(r=0.89310, P=0.0005). The mean Ht SDS for bone age in group A were significantly lower than those in group B(P<0.05). In group A, the mean PAH increased from 147.0+/-1.9 to 153.7+/-3.7cm during two years of treatment, but no difference in PAH was found in group B. So PAH were similar in two groups(154.1+/-8.7 vs. 153.7+/-3.7cm) after second year. The mean difference between bone age and chronological age decreased from 4.5+/-1.3 to 3.0+/-1.3 years in group A(P<0.05). CONCLUSION: Long-term Tryptorelin treatment is more effective in girls with idiopathic central precocious puberty, whose PAH before treatment were below 150cm. If PAH before treatment is 150 cm or greater or increase in PAH during the first year of treatment is poor, this treatment modality might be useless in terms of improved growth.
Adolescent ; Adult ; Female* ; Gonadotropin-Releasing Hormone* ; Humans ; Lutein* ; Puberty ; Puberty, Precocious*

Churg-Strauss syndrome is a rare systemic vasculitis occurring in patients with asthma and peripheral eosinophilia. Lungs, skin, and the nervous system are the most common sites of involvement, although many other organs are affected frequently. We report a case of 54-year-old male with a history of asthma and chronic rhinosinusitis who was admitted to the emergency department because of dyspnea and pleural pain. He was diagnosed with Churg-Strauss syndrome based on bronchial asthma, peripheral eosinophilia, pulmonary infiltration, chronic rhinosinusitis, and extravascular eosinophil infiltration. His symptoms were resolved dramatically after treatment with corticosteroids. Allergic rhinitis and chronic rhinosinusitis with or without polyps may be present at the early stage of Churg-Strauss syndrome. Therefore, otolaryngologists may play a pivotal role in making an early diagnosis of this disease.
Adrenal Cortex Hormones ; Asthma ; Churg-Strauss Syndrome* ; Dyspnea ; Early Diagnosis ; Emergency Service, Hospital ; Eosinophilia ; Eosinophils ; Humans ; Lung ; Male ; Middle Aged ; Nasal Cavity* ; Nervous System ; Polyps ; Pulmonary Eosinophilia ; Rhinitis ; Skin ; Systemic Vasculitis ; Vasculitis

PURPOSE: There have been high rates of false positive and recall in neonatal screening test using the cut-off points set by the manufacturing company. So, it is necessary to re-evaluate the cut-off values to minimize the false positive rates. METHODS: We collected capillary blood in dry filter paper from 996 healthy neonates on the third day in cases of normal vaginal delivery or the fifth day in cases of Cesarean section. The levels of phenylalanine, galactose, 17-hydroxyprogesterone and branched-chain amino acids were measured using enzyme immunoassay. The results were compared with the original cut-off points set by the manufacturing company. RESULTS: The original cut-off points of four substances were 4.0mg/dL, 7.5mg/dL, 35ng/mL, and 8.0mg/dL, respectively, so that false-positive rates were 0.4, 1.6, 3.93, and 0.001%, respectively. When we set the cut-off point at 99.7 percentile using the data from healthy neonates, they should be 4.0mg/dL, 9.2mg/dL, 54.3ng/mL, and 8.0mg/dL, respectively. CONCLUSION: The false-positive and recall rates were higher in galactosemia and congenital adrenal hyperplasia when using the original cut-off points, suggesting that it would be reasonable to modify the cut-off point at 99.7 percentile after measuring those substances from enough of healthy neonates.
17-alpha-Hydroxyprogesterone ; Adrenal Hyperplasia, Congenital ; Amino Acids, Branched-Chain ; Capillaries ; Cesarean Section ; Female ; Galactose ; Galactosemias ; Humans ; Immunoenzyme Techniques ; Infant, Newborn ; Metabolism, Inborn Errors* ; Neonatal Screening* ; Phenylalanine ; Pregnancy

PURPOSE: There have been high rates of false positive and recall in neonatal screening test using the cut-off points set by the manufacturing company. So, it is necessary to re-evaluate the cut-off values to minimize the false positive rates. METHODS: We collected capillary blood in dry filter paper from 996 healthy neonates on the third day in cases of normal vaginal delivery or the fifth day in cases of Cesarean section. The levels of phenylalanine, galactose, 17-hydroxyprogesterone and branched-chain amino acids were measured using enzyme immunoassay. The results were compared with the original cut-off points set by the manufacturing company. RESULTS: The original cut-off points of four substances were 4.0mg/dL, 7.5mg/dL, 35ng/mL, and 8.0mg/dL, respectively, so that false-positive rates were 0.4, 1.6, 3.93, and 0.001%, respectively. When we set the cut-off point at 99.7 percentile using the data from healthy neonates, they should be 4.0mg/dL, 9.2mg/dL, 54.3ng/mL, and 8.0mg/dL, respectively. CONCLUSION: The false-positive and recall rates were higher in galactosemia and congenital adrenal hyperplasia when using the original cut-off points, suggesting that it would be reasonable to modify the cut-off point at 99.7 percentile after measuring those substances from enough of healthy neonates.
17-alpha-Hydroxyprogesterone ; Adrenal Hyperplasia, Congenital ; Amino Acids, Branched-Chain ; Capillaries ; Cesarean Section ; Female ; Galactose ; Galactosemias ; Humans ; Immunoenzyme Techniques ; Infant, Newborn ; Metabolism, Inborn Errors* ; Neonatal Screening* ; Phenylalanine ; Pregnancy

BACKGROUND AND OBJECTIVES: Before the introduction of transnasal endoscopic sinus surgery, transorbital approach with an external incision used to be one of the representative reconstructive surgical repairing method of blow out fracture. The important advantages of transnasal endoscopic technique are magnified direct visualization and easy accessibility to the medial orbital wall. Nasopore Forte(R) is a slowly absorbable material and provides excellent durability. The purpose of this study is to evaluate outcomes of endoscopic endonasal reduction (EER) of medial blow out fracture using Nasopore Forte(R). SUBJECTS AND METHOD: A retrospective study was performed on 26 patients with medial blowout fracture who had undergone EER using Nasopore Forte(R) from January to December of 2010 at our clinic. A review of medical records included demographic data, preoperative ocular symptoms and signs, and surgical outcomes including postoperative symptom improvement and complications. RESULTS: Of 26 patients, 5 had persistent diplopia, 5 enophthalmos, and 3 both diplopia and enophthalmos preoperatively. Seventeen patients were asymptomatic, but had large defects with the mean defect size of 2.4 cm2. Postoperative computed tomography scan showed excellent (22) to good (4) reduction. Preoperative symptoms were resolved in all of 13 symptomatic patients and there was no enophthalmos during the follow-up period. No significant complications including sinusitis or synechia were found. CONCLUSION: EER is a highly effective and safe procedure for the reduction of medial blow out fracture. Nasopore Forte(R) is easy to handle and can be tailored to individual defects, and is useful for securing the reduction and preventing adhesion after EER.
Diplopia ; Enophthalmos ; Follow-Up Studies ; Humans ; Medical Records ; Orbit ; Retrospective Studies ; Sinusitis