PURPOSE: Multiple Endocrine Neoplasia Type 2A (MEN 2A) is an autosomal dominant disease characterized by development of the medullary thyroid cancer, adrenal pheochromocytoma and parathyroid hyperplasia. Gennline mutations of RET gene, which cause a susceptibility to MEN 2A syndrome, have been reported in MEN 2A families. The identification of germline mutation in family members with hereditary tumor syndrome makes the presymptomatic diagnosis possible. However, there are only a few reports on the germline mutation of RET gene in Korean patients with MEN 2A. This study was performed to investigate the germline mutation of RET gene in a Korean MEN 2A family. MATERIALS AND METHODS: Blood samples were taken from family members of a MEN 2A family. Mutational status was investigated using single strand conformation polymorphism (SSCP) method, and following direct sequencing. Basal level of calcitonin was measured, and calcium provocation test was done when the result of basal level of calcitonin was equivocal. RESULTS: A missense type germline mutation of RET gene was identified at codon 634 (TGC->TGG) in eight patients from the family. All patients with the germline mutation of RET gene showed elevation of calcitonin level either in basal test or in calcitonin provocation test. CONCLUSION: We identified a germline mutation of RET gene in a family with MEN 2A, and it would make the accurate presymptomatic diagnosis possible.
Calcitonin ; Calcium ; Codon ; Diagnosis ; Germ-Line Mutation ; Humans ; Hyperplasia ; Multiple Endocrine Neoplasia Type 2a* ; Multiple Endocrine Neoplasia* ; Pheochromocytoma ; Thyroid Neoplasms

Sixty diabetic cystopathy patients (symptomatic DCP, 4.9%) among 1236 patients of diabetes mellitus (DM) from May, 1995 to June, 1996 were analyzed to ascertain the usefulness of urodynamic study in the diagnosis of DCP. The mean age was 58 (24--80) years and mean duration of DM was 9 (1~30) years. 36 (60%) patients had diabetic neuropathy, 31 (52%) had diabetic retinopathy and 4 (7%) had diabetic nephropathy. DM was managed by insulin pump (DIABECARETM, 52%) and subcutaneous insulin injection (42%). In residual urine and voiding diaries, residual urine volume more than 40ml was 83%, voiding interval less than 2 or more than 5 hours was 67% and voiding amount less than 200ml or more than 400ml was 48%. According to urodynamic findings, patients were classified as detrusor areflexia (63%), impaired detrusor contractility (18%), detrusor instability (15%) and normal detrusor contraction (3%). There were no significant differences of age, semm-HbA1C, treatment method and duration of diabetes mellitus among above groups. Mean duration of DM in irritative symptom group (32%), combined symptom group (23%) and obstructive symptom group (45%) were 2 years, 8 years and 15 years respectively (p<0.001). The shape of the cystometrographic curve was not influenced by the rate of bladder filling (40ml/min versus 100ml/min). In conclusion, because DCP is marked by insidious onset and progression with minimal symptoms, DCP can be early diagnosed using urodynamic study especially in patients with voiding symptoms and 1ong.DM duration.
Diabetes Mellitus ; Diabetic Nephropathies ; Diabetic Neuropathies ; Diabetic Retinopathy ; Diagnosis ; Humans ; Insulin ; Urinary Bladder ; Urodynamics*

PURPOSE: To evaluate the effects of transient prone position on vault and anterior chamber angle parameters in ICL implanted patients. METHODS: 40 eyes of 20 ICL implanted patients with at least 1 month of follow-up were included in the present study. The central ICL vault and anterior chamber parameters including angle opening distance at 500 (AOD500) were measured with the Visante anterior segment optical coherence tomography (OCT) (Carl Zeiss, Dublin, CA) in both the sitting and prone positions by tilting the OCT 90 degrees in the vertical axis and having the patient fixate downwards towards the floor. RESULTS: The mean central vault was 0.55 +/- 0.21 mm (SD) and 0.59 +/- 0.21 mm (SD) in the sitting and prone positions, respectively (p < 0.0001). The nasal and temporal AOD500 were 0.26 +/- 0.11 mm and 0.28 +/- 0.08 mm, respectively in the sitting position, which decreased to 0.24 +/- 0.10 mm and 0.26 +/- 0.08 mm in the prone position, however, both were not statistically significant (p = 0.08, p = 0.09). AOD500 was inversely correlated with vault (r = -0.47; p = 0.0024). There were no significant correlations between increase of vault and anterior chamber depth or white to white nor ICL vault. CONCLUSIONS: Transient prone positioning of ICL implanted patients can induce a significant increase in ICL vault.
Anterior Chamber ; Axis, Cervical Vertebra ; Eye ; Follow-Up Studies ; Humans ; Phakic Intraocular Lenses ; Prone Position ; Tomography, Optical Coherence

A Case of pseudolymphoma involving the cavernous sinus in a 38-year-old male patient is reported. The patient was admitted because of intermittent diplopia and left side facial sensory change. The tumor was well demarcated, homogeneously enhancing mass in the left side cavernous sinus on MRI. The histopathological findings showed diffuse and dense infiltration of lymphocytes in connective tissue stroma without forming lymphoid follicle or germinal center and the infiltrating lymphocytes were well differentiated and matured. We report a rare case of pseudolymphoma arising in the cavernous sinus, which revealed polyclonal differentiation of lymphocytes confirmed the diagnosis of pseudolymphoma.
Adult ; Cavernous Sinus* ; Connective Tissue ; Diagnosis ; Diplopia ; Germinal Center ; Humans ; Lymphocytes ; Magnetic Resonance Imaging ; Male ; Pseudolymphoma*

No abstract available.

This study was conducted to assess the risk of breast cancer by menstrual, reproductive, and lactational factors in Korean women. A total of 210 women living in Seoul aged 30 to 60 with a first diagnosis of breast cancer from 2 teaching hospitals in Seoul, and 249 control subjects, randomly selected from the female pensioners of Korean Medical Insurance Company living in Seoul were interviewed. There was a increasing risk with the decrease of age at menarche, and the adjusted odds ratio(OR) of early menarche(age 14 years or less compared with over 17 years) was 1.61(95% Confidence Interval [CI]: 0.95-2.74). The longer the interval between menarche and regular menstruation, the less risk of breast cancer(OR=0.31, 95% CI: 0.16-0.60). The effect of these menarche factors were more prominent among premenopausal women. The adjusted OR for the second category(25-29 years old) of the age at first pregnancy and the age at the first full term pregnancy, compared to the reference category( 24 years old), were 0.52(95% CI: 0.30-0.92) and 0.58(95% CI: 0.32-1.06), respectively. The late age at the last full term pregnancy had significant protective effect (OR=0.29, 95% CI: 0.10-0.88), and the age itself was important rather than the interval between the first and last full term pregnancy. Factors related to breast feeding(BF) had protective effect consistently. Among parous women, in referent to no BF, women with 1 year of BF had adjusted OR of 0.34(95% CI: 0.17-0.68), while those with 1-3 years of BF had 0.35(95% CI: 0.18-0.67), 3-5 years had 0.29(95% CI: 0.12-0.74), and more than 5 years had 0.06(95% CI: 0.02-0.17). Age at menarche with regular cycle have stronger effect on especially pre-menopausal breast cancer among Korean women. Recent increase in breast cancer incidence in Korea would be explained by delayed age at first pregnancy or delivery, earlier age at menarche and last delivery, and decrease in brest feeding.
Breast Feeding ; Breast Neoplasms* ; Breast* ; Case-Control Studies* ; Diagnosis ; Female ; Hospitals, Teaching ; Humans ; Incidence ; Insurance ; Korea* ; Menarche ; Menstruation ; Pensions ; Pregnancy ; Seoul

Growth factor stimulation induces Y783 phosphorylation of phosphoinositide-specific PLC-gamma1, and the subsequent activation of this enzyme in a cellular signaling cascade. Previously, we showed that a double point mutation, Y509A/F510A, of PLC-gamma1, abolished interactions with translational elongation factor 1-alpha. Here, we report that the Y509A/F510A mutant PLC-gamma1 displayed extremely high levels of Y783 phosphorylation and enhanced catalytic activity, compared to wild-type PLC-gamma1, upon treatment of COS7 cells with EGF. In quiescent COS7 cells, the Y509A/F510A mutant PLC-gamma1 exhibited a constitutive hydrolytic activity, whereas the wild-type counterpart displayed a basal level of activity. Upon treatment of COS7 cells with EGF, the Y783F mutation in Y509A/F510A PLC-gamma1 (Y509A/F510A/Y783F triple mutant) cells also led to an enhanced catalytic activity, whereas Y783F mutation alone displayed a basal level of activity. Our results collectively suggest that the Y509A/F510A mutant is more susceptible to receptor tyrosine kinase-induced Y783 phosphorylation than is wild-type PLC-gamma1, but no longer requires Y783 phosphorylation step for the Y509A/F510A mutant PLC-gamma1 activation in vivo.
Amino Acid Substitution/drug effects/*genetics ; Animals ; COS Cells ; Cercopithecus aethiops ; Enzyme Activation/drug effects ; Epidermal Growth Factor/*pharmacology ; Hydrolysis/drug effects ; Mutant Proteins/metabolism ; Phosphatidylinositols/*metabolism ; Phospholipase C gamma/*genetics/metabolism ; Phosphorylation/drug effects ; Phosphotyrosine/*metabolism ; Point Mutation/*genetics ; Rats

The purpose of this study was to set the guidelines for selection of patients to do early surgery in ruptured intracranial aneurysm. We assessed 706 patients with single rupture and without large hematoma, who underwent aneurysm surgery from 1985 to 1995. The male and female ratio was 1:1.5. Among the 706 patients, early surgery was performed in 214 cases. The results of early surgery were good in 193 cases(90.2%), fair in 13 cases(6.0%), poor in 1 case(0.5%) and dead in 7 cases(3.3%). The rate of dead outcome in the early surgery group was higher compared to other timing groups. The Fisher group 1, 2 and 3 reveale good outcome in early surgery group;92.6%, 96.3%, 88.8% respectively. The incidence of delayed ischemic deficits(DID) of early surgery group was same as other groups. However, in Fisher group 3, the incidence of DID was significantly low, 32.5%, in early surgery group. It is suggested that the criteria of selection of early surgery in patients with ruptured intracranial aneurysm would include as follows:1) patients with good clinical grade, 2) poor grade patients with marked irritability, acute hydrocephalus, and poorly controlled hypertension, 3) none-complex aneurysm requiring less brain retraction, dissection and brief temporary clipping, 4) age under 60 or over 60 with good physical status, and 5) Fisher group 3 requiring cisternal larvage and anticipated triple-H therapy.
Aneurysm ; Brain ; Female ; Hematoma ; Humans ; Hydrocephalus ; Hypertension ; Incidence ; Intracranial Aneurysm* ; Male ; Patient Selection* ; Rupture

PURPOSE: To evaluate the clinical effects of an automatic energy-lowering system in patients over the age of 28 years with Schwind Amaris laser platform by analyzing the enhancement operation rate according to age. METHODS: A total of 20448 eyes from 10224 patients who received a bilateral LASIK or LASEK operation with the Schwind Amaris laser platform between August 2007 and April 2011 in our clinic were included in the present study. The rate of enhance operation due to undercorrection was analyzed to determine whether the age affects the enhancement operation rate. RESULTS: There were a total of 17 enhancement operations. Fifteen out of 17 eyes who received the enhanced operation were above the age of 28 years (p=0.005). In multivariate analysis, patient age over 28 years (OR=6.75, CI 1.54-29.60, p=0.011), preoperative higher spherical equivalent (OR=0.56, CI 0.41-0.77, p=0.0004) and preoperative higher mean keratometric value (OR=1.38, CI 1.01-1.88, p=0.043) were significantly associated with a higher enhancement operation rate. CONCLUSIONS: Surgeons should be aware that the amount of laser energy from Schwind Amaris laser platform is automatically reduced in patients above the age of 28 years. Therefore, the nomogram should be adjusted to reduce the enhancement operation rate for a specific age group, especially in patients with higher preoperative myopic errors and steeper cornea.
Composite Resins ; Cornea ; Eye ; Humans ; Keratectomy, Subepithelial, Laser-Assisted ; Keratomileusis, Laser In Situ ; Multivariate Analysis ; Nomograms ; Refractive Surgical Procedures

PURPOSE: To evaluate the crystalline lens thickness/anterior chamber depth (CLT/ACD) ratio as a preoperative factor that affects the vault after implantable contact lens (ICL) implantation. METHODS: A total of 130 eyes of 130 patients who received bilateral ICL implantation were included in the present study. The preoperative CLT/ACD ratio was analyzed to determine if the patients had any correlation with postoperative vault by Visante optical coherence tomography (OCT). RESULTS: The mean vault was 0.58 mm +/- 0.23 at postoperative 2 months. Eight eyes (6.15%) had low vault, 93 eyes (71.53%) had ideal vault and 29 eyes (29.31%) had high vault. The CLT/ACD ratios were 1.04 mm +/- 0.11, 0.96 mm +/- 0.09 and 0.90 mm +/- 0.09 in the low vault group, ideal vault group and high vault group, respectively (p < 0.01). The CLT/ACD ratio showed statistically significant correlations with postoperative vault in univariate analysis (r = -0.4718; p < 0.01) and in multivariate analysis (p < 0.01). CONCLUSIONS: Vaults after ICL implantation have a negative correlation with the preoperative CLT/ACD ratio. The results from the present study may improve the prediction of postoperative vault after ICL implantation.
Anterior Chamber ; Eye ; Humans ; Lens, Crystalline ; Lenses, Intraocular ; Multivariate Analysis ; Phakic Intraocular Lenses ; Tomography, Optical Coherence