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S Y Oh

Publications and source records attributed to S Y Oh.

At least 37 records · Page 2Linked to original sources
PubMed2001

Structure-function correlation of laminar vascularity in human rectus extraocular muscles.

PURPOSE: Orbital and global layers of rectus extraocular muscles (EOMs) are believed to serve different functions. This study sought anatomic and functional evidence of differing blood flow in the two layers of rectus EOMs. METHODS: Four human orbits ranging in age from 17 months to 93 years were serially sectioned and stained for muscle fibers with Masson's trichrome and for vascular smooth muscle with monoclonal antibody to smooth muscle alpha-actin. Digitally assisted microscopy was used to obtain measurements of luminal cross sections and counts of muscular blood vessels, as well as measurements of muscle fiber number and cross-sectional areas of the two layers. Findings were correlated with first-pass gadodiamide contrast magnetic resonance imaging (MRI) in two living humans to demonstrate relative perfusion of EOMs. RESULTS: In all rectus EOMs, the orbital layer had significantly more vessels per unit area, more vessels per fiber, and more total vascular luminal area, than the global layer (P: < 0.05). Vascularity of EOMs was greatest in the youngest specimen. First-pass contrast MRI was consistent with perfusion of the orbital layer earlier than the global layer of living human rectus EOMs. CONCLUSIONS: Orbital layers of human rectus EOMs have significantly more muscular vessels than the global layers and stain earlier after intravenous bolus injection of paramagnetic MRI contrast. These findings suggest higher and even more rapid blood flow in the orbital layers that may correlate with greater metabolic activity. Greater blood flow is consistent with more sustained mechanical loading of the orbital than the global layer.

Adult↗
PubMed2001

HLA-DRB1*07 may have a susceptibility and DRB1*04 a protective effect upon the development of a sensitization to house dust mite Dermatophagoides pteronyssinus.

BACKGROUND: IgE responses to house dust mite-derived allergens seem to be the most important in the development of atopic asthma and rhinitis, but it has been difficult to demonstrate genetic control of the IgE response to the allergens. OBJECTIVE: This study was undertaken to investigate the association between sensitization to house dust mite, D. pteronyssinus (DP), and genotypes of HLA-DRB1 alleles. METHODS: DNAs were extracted from two groups of unrelated Koreans: (1) 178 with sensitization to DP; and (2) 99 age-matched non-atopic controls. Genotypes of the HLA-DRB1 alleles were determined using polymerase chain reaction (PCR)-based methods. RESULTS: The frequency of HLA-DRB1*07 was significantly increased in the DP-sensitive subjects compared with the controls (15.7% vs 4.0%, P = 0.009). Conversely, the frequencies of HLA-DRB1*04 and *14 were decreased in the DP-sensitive subjects compared with the controls (27.5% vs 45.5%, P = 0.002; 13.5% vs 24.2%, P = 0.02). Of the DRB1*04 alleles, DRB1*0403 was significantly decreased in the DP-sensitive subjects compared with the controls (3.9% vs 13.1%, P = 0.005). No significant differences were found in the distributions of the other HLA-DRB1 alleles between the two groups. CONCLUSION: HLA-DRB1*07 may have a susceptibility, and DRB1*04 and DRB1*14 may have a protective effect, upon the development of a sensitization to DP.

Adolescent↗
PubMed2000

H2O2-sensitive fur-like repressor CatR regulating the major catalase gene in Streptomyces coelicolor.

Streptomyces coelicolor produces three distinct catalases to cope with oxidative and osmotic stresses and allow proper growth and differentiation. The major vegetative catalase A (CatA) is induced by H(2)O(2) and is required for efficient aerobic growth. In order to investigate the H(2)O(2)-dependent regulatory mechanism, an H(2)O(2)-resistant mutant (HR40) overproducing CatA was isolated from S. coelicolor A3(2). Based on the genetic map location of the mutated locus in HR40, the wild type catR gene was isolated from the ordered cosmid library of S. coelicolor by screening for its ability to suppress the HR40 phenotype. catR encodes a protein of 138 amino acids (15319 Da), with sequence homology to ferric uptake regulator (Fur)-like proteins. Disruption of catR caused CatA overproduction as observed in the HR40 mutant, confirming the role of CatR as a negative regulator of catA expression. The levels of catA and catR transcripts were higher in HR40 than in the wild type, implying that CatR represses transcription of these genes. Transcripts from the catA and catR genes were induced within 10 min of H(2)O(2) treatment, suggesting that the repressor activity of CatR may be directly modulated by H(2)O(2). A putative CatR-binding site containing an inverted repeat of 23 base pairs was localized upstream of the catA and catR gene, on the basis of sequence comparison and deletion analysis. CatR protein purified in the presence of dithiothreitol bound to this region, whereas oxidized CatR, treated with H(2)O(2) or diamide, did not. The redox shift of CatR involved thiol-disulfide exchange as judged by modification of free thiols with 4-acetamido-4'-maleimidylstilbene-2,2'-disulfonate. From these results we propose that CatR regulates its downstream target genes as a repressor whose DNA binding ability is directly modulated by redox changes in the cell.

Amino Acid Sequence↗
PubMed2000

Implication of a small GTPase Rac1 in the activation of c-Jun N-terminal kinase and heat shock factor in response to heat shock.

Heat shock induces c-Jun N-terminal kinase (JNK) activation as well as heat shock protein (HSP) expression through activation of the heat shock factor (HSF), but its signal pathway is not clearly understood. Since a small GTPase Rac1 has been suggested to participate in the cellular response to stresses, we examined whether Rac1 is involved in the heat shock response. Here we show that moderate heat shock (39-41 degrees C) induces membrane translocation of Rac1 and membrane ruffling in a Rac1-dependent manner. In addition, Rac1N17, a dominant negative mutant of Rac1, significantly inhibited JNK activation by heat shock. Since Rac1V12 was able to activate JNK, it is suggested that heat shock may activate JNK via Rac1. Similar inhibition by Rac1N17 of HSF activation in response to heat shock was observed. However, inhibitory effects of Rac1N17 on heat shock-induced JNK and HSF activation were reduced as the heat shock temperature increased. Rac1N17 also inhibited HSF activation by l-azetidine-2-carboxylic acid, a proline analog, and heavy metals (CdCl)), suggesting that Rac1 may be linked to HSF activation by denaturation of polypeptides in response to various proteotoxic stresses. However, Rac1N17 did not prevent phosphorylation of HSF1 in response to these proteotoxic stresses. Interestingly, a constitutively active mutant Rac1V12 did not activate the HSF. Therefore, Rac1 activation may be necessary, but not sufficient, for heat shock-inducible HSF activation and HSP expression, or otherwise a signal pathway(s) involving Rac1 may be indirectly involved in the HSF activation. In sum, we suggest that Rac1 may play a critical role(s) in several aspects of the heat shock response.

Animals↗
PubMed2000

First success of catalytic epoxidation of olefins by an electron-rich iron(III) porphyrin complex and H2O2: imidazole effect on the activation of H2O2 by iron porphyrin complexes in aprotic solvent.

An electron-rich iron(III) porphyrin complex (meso-tetramesitylporphinato)iron(III) chloride [Fe(TMP)Cl], was found to catalyze the epoxidation of olefins by aqueous 30% H2O2 when the reaction was carried out in the presence of 5-chloro-1-methylimidazole (5-Cl-1-Melm) in aprotic solvent. Epoxides were the predominant products with trace amounts of allylic oxidation products, indicating that Fenton-type oxidation reactions were not involved in the olefin epoxidation reactions. cis-Stilbene was stereospecifically oxidized to cis-stilbene oxide without giving isomerized trans-stilbene oxide product, demonstrating that neither hydroperoxy radical (HOO*) nor oxoiron(IV) porphyrin [(TMP)FeIV=O] was responsible for the olefin epoxidations. We also found that the reactivities of other iron(III) porphyrin complexes such as (meso-tetrakis(2,6-dichlorophenyl)porphinato)iron(III) chloride [Fe(TDCPP)Cl], (meso-tetrakis(2,6-difluorophenyl)porphinato)iron(III) chloride [Fe(TDFPP)Cl], and (meso-tetrakis(pentafluorophenyl)porphinato)iron(III) chloride [Fe(TPFPP)CI] were significantly affected by the presence of the imidazole in the epoxidation of olefins by H2O2. These iron porphyrin complexes did not yield cyclohexene oxide in the epoxidation of cyclohexene by H2O2 in the absence of 5-Cl-1-MeIm in aprotic solvent; however, addition of 5-Cl-1-MeIm to the reaction solutions gave high yields of cyclohexene oxide with the formation of trace amounts of allylic oxidation products. We proposed, on the basis of the results of mechanistic studies, that the role of the imidazole is to decelerate the O-O bond cleavage of an iron(III) hydroperoxide porphyrin (or H2O2-iron(II) porphyrin adduct) and that the intermediate transfers its oxygen to olefins prior to the O-O bond cleavage.

Alkenes↗
PubMed2000

A method for parameter optimization in computational biology.

Models in computational biology, such as those used in binding, docking, and folding, are often empirical and have adjustable parameters. Because few of these models are yet fully predictive, the problem may be nonoptimal choices of parameters. We describe an algorithm called ENPOP (energy function parameter optimization) that improves-and sometimes optimizes-the parameters for any given model and for any given search strategy that identifies the stable state of that model. ENPOP iteratively adjusts the parameters simultaneously to move the model global minimum energy conformation for each of m different molecules as close as possible to the true native conformations, based on some appropriate measure of structural error. A proof of principle is given for two very different test problems. The first involves three different two-dimensional model protein molecules having 12 to 37 monomers and four parameters in common. The parameters converge to the values used to design the model native structures. The second problem involves nine bumpy landscapes, each having between 4 and 12 degrees of freedom. For the three adjustable parameters, the globally optimal values are known in advance. ENPOP converges quickly to the correct parameter set.

Algorithms↗
PubMed2000

The relationship among inflammatory lesions of the umbilical cord (funisitis), umbilical cord plasma interleukin 6 concentration, amniotic fluid infection, and neonatal sepsis.

OBJECTIVE: The purpose of this study was to determine whether funisitis (inflammation of the umbilical cord detected by histologic examination of the placenta) is associated with changes in the umbilical cord plasma concentration of interleukin 6, microbial invasion of the amniotic cavity, and neonatal sepsis. STUDY DESIGN: The relationship among the presence of funisitis, interleukin 6 concentrations in umbilical cord plasma at birth, the results of amniotic fluid culture performed within 3 days of birth, and the occurrence of congenital neonatal sepsis was examined in 315 consecutive singleton preterm births (20-35 weeks' gestation). Funisitis was diagnosed in the presence of neutrophil infiltration into the umbilical vessel walls or Wharton jelly. The interleukin 6 concentration was measured with a specific immunoassay. Amniocentesis was performed in 106 patients within 3 days of birth. Amniotic fluid was cultured for aerobic and anaerobic bacteria and for mycoplasmas. RESULTS: (1) Funisitis was present in 25% of patients (78/315). (2) Patients with funisitis had a significantly higher median cord plasma interleukin 6 and a lower gestational age at birth than did those without funisitis (cord interleukin 6: median, 52.4 pg/mL; range, 0.9-19,230 pg/mL; vs median, 4.6 pg/mL; range, 0-18,108 pg/mL; gestational age: median, 31.1 weeks' gestation; range, 21.0-35.0 weeks' gestation; vs median, 32.9 weeks' gestation; range, 21.4-35.0 weeks' gestation; P<.001 for each comparison). (3) A cord plasma interleukin 6 of > or =17.5 pg/mL had a sensitivity of 70% and a specificity of 78% in the identification of funisitis. (4) Microbial invasion of the amniotic cavity and clinical chorioamnionitis were more common among patients with funisitis than among those without funisitis (positive amniotic fluid culture: 53% [20/38]; vs. 12% [8/68]; clinical chorioamnionitis: 18% [14/78]; vs. 4% [9/237]; P<.001 for each comparison). (5) Neonates with funisitis had a significantly higher rate of congenital sepsis than did those without this lesion (12% [8/66] vs. 1% [3/216]; P<.001); this difference remained significant after adjustment for gestational age at birth (odds ratio, 7.2; 95% confidence interval, 1.8-29.0). CONCLUSION: (1) Umbilical cord plasma interleukin 6 concentrations were higher in neonates born with funisitis than in those without this lesion. (2) Funisitis is associated with amniotic fluid infection, congenital neonatal sepsis, and the fetal inflammatory response syndrome.

Adult↗
PubMed2000

Regulation of the furA and catC operon, encoding a ferric uptake regulator homologue and catalase-peroxidase, respectively, in Streptomyces coelicolor A3(2).

We isolated the catC gene, encoding catalase-peroxidase in Streptomyces coelicolor, using sequence homology with the katG gene from Escherichia coli. Upstream of the catC gene, an open reading frame (furA) encoding a homologue of ferric uptake regulator (Fur) was identified. S1 mapping analysis indicated that the furA gene was cotranscribed with the catC gene. The transcriptional start site of the furA-catC mRNA was mapped to the translation start codon ATG of the furA gene. The putative promoter contains consensus -10 and -35 elements similar to those recognized by sigma(HrdB), the major sigma factor of S. coelicolor. The transcripts were produced maximally at late-exponential phase and decreased at the stationary phase in liquid culture. The change in the amount of mRNA was consistent with that of CatC protein and enzyme activity. When the furA gene was introduced into S. lividans on a multicopy plasmid, the increased production of catC transcripts and protein product at late growth phase was inhibited, implying a role for FurA as the negative regulator of the furA-catC operon. FurA protein bound to its own promoter region between -59 and -39 nucleotides from the transcription start site. The binding affinity of FurA increased under reducing conditions and in the presence of metals such as Ni(2+), Mn(2+), Zn(2+), or Fe(2+). Addition of these metals to the growth medium decreased the production of CatC protein, consistent with the role of FurA as a metal-dependent repressor.

Amino Acid Sequence↗
PubMed2000

Pharmacokinetics and hepatoprotective effects of 2-methylaminoethyl-4,4'-dimethoxy-5 ,6,5',6'dimethylenedioxybiphenyl-2-carboxylic acid-2'-carboxylate monohydrochloride in rats with CCl4-induced acute hepatic failure.

The pharmacokinetics and hepatoprotective effects of 2-methylaminoethyl-4,4'-dimethoxy-5,6,5',6'-dimethylenedioxybip henyl-2-carboxylic acid-2'-carboxylate monohydrochloride (DDB-S) have been investigated in rats with CCl4-induced acute hepatic failure. To study the pharmacokinetics of DDB-S, rats were divided into a control group and a CCl4-intoxicated group. DDB-S 50 mg kg(-1) was administered by intravenous bolus injection to both groups of rats. In the CCl4-intoxicated rats the plasma concentrations of DDB-S were significantly higher, the area under the plasma concentration-time curve from time zero to time infinity was significantly greater (6-46 vs 3.34 mg min mL(-1)), and the total body (7.74 vs 15.0 mL min(-1) kg(-1)), renal (2.55 vs 5.10 mL min(-1) kg(-1)), nonrenal (5.07 vs 9.65 mL min(-1) kg(-1)), and biliary (1.48 vs 2.69 mL min(-1) kg(-1)) clearances were significantly slower compared with the control rats. This could be due to decreased hepatic cytochrome P450 activity and impaired kidney function induced by CCl4. To study the hepatoprotective effects of DDB-S, rats were divided into three groups, control rats and CCl4-intoxicated rats with or without DDB-S pretreatment (50 mg kg(-1) i.p.). The effects of DDB-S pretreatment on CCl4-induced liver injury were considerable; the serum levels of alanine transaminase, aspartate transaminase, and alkaline phosphatase were significantly lower by 54.3, 44.6 and 67.2%, respectively, compared with the CCl4-intoxicated-only group. In an in-vitro study, rat hepatocytes were exposed to fresh medium containing 10 mM CCl4 and various concentrations of DDB-S (10 or 100 microg mL(-1)). The levels of alanine transaminase and aspartate transaminase in the medium were measured as an indicator of hepatocyte injury. DDB-S dose-dependently decreased the levels of alanine transaminase and aspartate transaminase compared with CCl4-intoxication only. These results indicate that DDB-S has hepatoprotective activity.

Alanine Transaminase↗
PubMed2000

Evidence for active control of rectus extraocular muscle pulleys.

PURPOSE: Connective tissue structures constrain paths of the rectus extraocular muscles (EOMs), acting as pulleys and serving as functional EOM origins. This study was conducted to investigate the relationship of orbital and global EOM layers to pulleys and kinematic implications of this anatomy. METHODS: High-resolution magnetic resonance imaging (MRI) was used to define the anterior paths of rectus EOMs, as influenced by gaze direction in living subjects. Pulley tissues were examined at cadaveric dissections and surgical exposures. Human and monkey orbits were step and serially sectioned for histologic staining to distinguish EOM fiber layers in relationship to pulleys. RESULTS: MRI consistently demonstrated gaze-related shifts in the anteroposterior locations of human EOM path inflections, as well as shifts in components of the pulleys themselves. Histologic studies of human and monkey orbits confirmed gross examinations and surgical exposures to indicate that the orbital layer of each rectus EOM inserts on its corresponding pulley, rather than on the globe. Only the global layer of the EOM inserts on the sclera. This dual insertion was visualized in vivo by MRI in human horizontal rectus EOMs. CONCLUSIONS: The authors propose the active-pulley hypothesis: By dual insertions the global layer of each rectus EOM rotates the globe while the orbital layer inserts on its pulley to position it linearly and thus influence the EOM's rotational axis. Pulley locations may also be altered in convergence. This overall arrangement is parsimoniously suited to account for numerous aspects of ocular dynamics and kinematics, including Listing's law.

Actins↗
PubMed1999

Within- and between-person variation of nutrient intakes of older people in Korea.

OBJECTIVES: (i) To examine the components of variation in nutrient intakes for older Korean adults; (ii) To calculate the level of accuracy with varying degree of precision in order to achieve estimates of usual nutrient intakes. DESIGN: Five or six 24 h recalls were made over a four month period on each individual. SETTING: A senior school from a middle-income, urban community in Inchon, Korea. SUBJECTS: Forty-seven males and 36 females over 60 y old with complete records for at least five dietary recalls. RESULTS: The within-person variation of nutrient intakes (21.8-103.2%) was higher and differed more markedly by nutrients than the between-person variation (9.4-63.7%). Males (2.26-11.28) showed larger within-to-between person variance ratios than females (1.73-5.86). The variance ratios were different by nutrients for males, but no such pattern was observed for females. Depending on nutrients, 5-6 recalls over a four month period gave estimates of nutrient intakes within 30-50% of usual intakes. For most nutrients, 100-200 subjects were sufficient to obtain estimates with 10% deviation of group usual intakes. Achieving r=0.9 between observed and usual intakes required 24-54 recalls for males and 8-23 recalls for females. CONCLUSIONS: The degree of precision achieved during assessment of older Korean adults' usual nutrient intakes changes with gender and by the type of nutrients. Achieving similar level of accuracy of the estimates, older Korean adults may require more dietary recalls than the adults in western countries.

Aged↗
PubMed1999

Altered serum cytokine and immunoglobulin levels in the workers exposed to antimony.

1 Antimony (Sb), an industrial and environmental toxicant, is known to cause dermatitis and pulmonary inflammations, but the immunomodulatory effects of environmental or occupational exposure to Sb have not been reported. To initiate investigation of Sb-induced alterations of the immune system, the concentrations of the IgG subclasses, IgE, interleukin-2, interferon-gamma, and interleukin-4 in sera obtained from workers exposed to Sb through antimony trioxide manufacture were determined and compared with those of control subjects. 2 The serum levels of IgG1, an immunoglobulin involved in host defense against many microbial infections, were significantly lower in the sera of Sb-exposed individuals than the controls. The serum concentrations of IgE, an immunoglobulin mediating allergic hypersensitivity, also were lower in the Sb-exposed workers than the controls. In addition, the levels of interleukin-2 and interferon-gamma, multifunctional cytokines for T-cell mediated immunity, were lowered in the factory workers. 3 A significant positive correlation between IgG4 and urine Sb levels was found among the Sb-exposed workers, indicating a possible role of IgG4 in Sb-mediated pulmonary or skin pathogenesis. 4 The present study provides the first report on immune alterations induced by occupational exposure to Sb and suggests that Sb exposure disturbs immunohomeostasis in humans observed as a function of aberrant serum cytokine and immunoglobulin levels, which could influence health.

Adult↗
PubMed1999

Clinical effect of low vision aids.

The number of patients with low vision is increasing as life expectancy increases. In addition, the interest and demand for low vision aids are also increasing with improved socioeconomic status and the development of mass media. Therefore, it is imperative to recognize the importance of low vision aids. We reviewed the clinical records of 118 patients who visited our low vision clinic more than twice. According to the data analyzed, optic nerve atrophy, retinal degeneration, diabetic retinopathy and age-related macular degeneration were the most common causes of low vision in these patients. The best corrected visual acuities without low vision aids were less than 0.3, but with the help of low vision aids, vision improved to more than 0.4 in 87% of the patients for near vision, and 56% for distant vision. The patients had complained that they could not read books, see a blackboard, recognize a person at a distance, and had other problems because of low vision. However, with the use of low vision aids their satisfaction with their vision rose to 70%. Hand magnifiers, high-powered spectacle lenses, and stand magnifiers were the low vision aids commonly used by people for near vision, while the Galilean telescope and Keplerian telescope were the most popular devices used for distant vision. In conclusion, low vision aids are very helpful devices to patients with low vision.

Adolescent↗
PubMed1999

The effect of mitomycin-C on the healing process in rabbit extraocular muscle surgery.

BACKGROUND AND OBJECTIVE: One of the most serious complications following extraocular muscle surgery is formation of postoperative adhesions that may result in restrictive ocular motility dysfunction. The effect of mitomycin-C (MMC) on postoperative wound healing in extraocular muscle surgery was investigated. MATERIALS AND METHODS: Sixteen albino rabbits (24 eyes) were used and anesthetized with ketamine and xylazine. These rabbits were divided into 3 groups; (1) control group (balanced salt solution (BSS) exposure for 5 minutes), (2) Group 1 (0.5 mg/ml MMC exposure for 1 minute) and (3) Group 2 (0.5 mg/ml MMC exposure for 5 minutes). After 3 mm recession of superior rectus muscle, MMC or BSS was applied using Weck-Cel sponge (Solan, Jacksonville, FL). The reduction of fibroblast and collagen fiber proliferation were evaluated histopathologically with light microscope at 1, 2, 4 and 8 weeks after operation. We also evaluated the amount of basic fibroblast growth factor (bFGF) by immunohistochemical study at the same time. RESULTS: Histopathologically, there was a more significant reduction of fibroblast and collagen fiber proliferation in Group 1 and 2 than the control group. Immunohistochemically, Group 1 and 2 showed lesser expression of bFGF than the control group. But, there was no difference between Group 1 and 2. CONCLUSIONS: Topical intraoperative application of mitomycin C in extraocular muscle surgery may reduce postoperative adhesions.

Animals↗
PubMed1998

Behavior of CHO cells on phosphated cellulose membranes.

Phosphate groups (negatively charged chemical groups) were grafted onto the surface of cellulose membranes by a reaction between hydroxyl groups of cellulose and phosphorus pentoxide to observe the effect of phosphate groups on cellular behavior. X-ray photoelectron spectroscopy (XPS) was used to determine phosphorylation. Captive bubble contact angle measurement was used to determine surface wettability. XPS was also used to analyze serum protein adsorption. Chinese hamster ovary (CHO) cells were maintained in Ham's F-12 nutrient mixture with and without fetal calf serum. Total cell area and shape factor were analyzed using image-analyzing software. Serum proteins showed higher adsorption on phosphated cellulose. Cell spreading on phosphated membranes was greater than on the cellulose membrane that served as control. The cell growth rate was faster compared to the control. Large cell aggregates were not found on the phosphated membranes, in contrast to the control membrane. The cells on the control were aggregated regardless of the existence of divalent cations in the medium.

Adsorption↗
PubMed1998

Enhanced transdermal delivery of AZT (Zidovudine) using iontophoresis and penetration enhancer.

The effect of current, its magnitude and penetration enhancers (propylene glycol/oleic acid) on the transdermal flux of AZT (Zidovudine) across hairless mouse skin was studied and the results were compared. The in vitro iontophoretic flux from AZT solution increased to about 5-40 fold that obtained by passive diffusion, depending on the magnitude of current density. When the donor side was karaya gum matrix, instead of solution, the flux enhancement effect by iontophoresis was much smaller. Incorporation of penetration enhancers into the matrix increased the passive flux 2-50 fold, depending on the amount of penetration enhancers in the matrix. These enhancers worked synergistically with iontophoresis in the transdermal transport: a much larger flux than that expected from a simple additive effect was observed. Electrical resistance data from our previous work is utilized to further discuss this synergistic effect.

Administration, Cutaneous↗
PubMed1998

Clinical characteristics of CHARGE syndrome.

CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of CHARGE syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning CHARGE syndrome.

Abnormalities, Multiple↗