Menkes disease is an X-linked recessively inherited neurodegenerative disorder of copper metabolism leading to death in early childhood. This disease is characterized by low serum, liver and brain Cu levels, whereas the Cu content in nearly all other organs is increased. The main clinical features are irregular kinky hair, characteristic face, progresssive degeneration of the central nervous system, bone changes, arterial rupture and thrombosis, and instability of temperature. We have experienced a case of Menkes disease in a eight months old male patient, who manifested by seizure, developmental delay, hypotonia, characteristic hair and face along with low levels of serum copper and ceruloplasmin. We report the characteristic findings of cranial MRI and MR angiography in this Menke's patient. In cranial MRI, he showed progressive brain atrophy with subdural hemorrhage and effusion. MR angiography revealed tortuosity of vessels clearly obviating necessity of more invasive conventional arteriography in diagnosis of this disease. This study suggested that cranial MRI and especially MR angiography might be helpful in making early diagnosis of this disease.
Angiography ; Atrophy ; Brain ; Central Nervous System ; Ceruloplasmin ; Copper ; Diagnosis ; Early Diagnosis ; Hair ; Hematoma, Subdural ; Humans ; Liver ; Magnetic Resonance Imaging ; Male ; Menkes Kinky Hair Syndrome ; Metabolism ; Muscle Hypotonia ; Neurodegenerative Diseases ; Rupture ; Seizures ; Thrombosis

No abstract available.
Granulomatous Disease, Chronic* ; Trimethoprim-Sulfamethoxazole Combination

PURPOSE: To classify Avellino corneal dystrophy (ACD) into 3 groups by slit lamp photography and to evaluate the inter-group differences. METHODS: DNA analysis was performed in one member from each of 45 families who were clinically diagnosed as ACD. Corneal opacities were classified into mild (group I), moderate (group II), and severe (group III) based on slit lamp photograph. RESULTS: Six patients were confirmed as homozygous ACD and ninety-two as heterozygous ACD. One homozygous patient was revealed to have a novel phenotype. The age increased with increasing severity, and the proportion of females in group III was significantly higher than that of the other two groups (p=0.001). The prevalence of laser in situ keratomileusis (LASIK) increased in group III (p=0.001), and the incidence of pterygium increased in group I compared with the other two groups (p=0.025). CONCLUSIONS: ACD was aggravated with age, while pterygium and LASIK altered the natural course of ACD.
Classification* ; Corneal Opacity ; DNA ; Female ; Humans ; Incidence ; Keratomileusis, Laser In Situ ; Phenotype ; Photography ; Prevalence ; Pterygium

PURPOSE: To report a case of a patient who underwent penetrating keratoplasty due to acute hydrops six years after undergoing a bilateral LASIK procedure. METHODS: A 19-year old male patient with -2.75 diopter myopia received a bilateral LASIK operation at a local clinic. Forty-seven months later, -2.00 cyl axis 130o astigmatism was induced in his left eye and additional surgery was performed to correct the LASIK-induced astigmatism. The patient was referred to our hospital 16 months after the secondary operation due to reduced visual acuity in his left eye. He was diagnosed with keratectasia and acute hydrops, and penetrating keratoplasty was performed. RESULTS: The retrospective analysis of the corneal topography prior to the LASIK surgery revealed that the inferior minus superior(I-S) value was 1.25 in the right eye and 1.3 in the left eye. At the time of the first evaluation at out hospital, a slit lamp examination showed an approximate 8 x 7.5mm sized area filled with aqueous humor between the corneal flap and residual stroma, and Descemet's membrane rupture was observed. Furthermore, the histopathological section of the patient's cornea confirmed keratocytes with myxoid degeneration and edematous change. CONCLUSIONS: In young patient, particularly those with suspicious asymptomatic keratoconus, LASIK and further enhancement surgery afterwards should be considered and approached in a cautious and deliberate manner.
Male ; Humans

Purpose: To compare the visual outcomes and corneal aberrations between wavefront-optimized (WFO) and corneal wavefront-guided (WFG) photorefractive keratectomy (PRK) in low to moderate myopia. Methods: Twenty-seven eyes treated with WFO and 29 eyes treated with WFG PRK using a Schwind Amaris 750S Excimer laser were included after 6 months of postoperative follow-up. Uncorrected distance visual acuity, corrected distance visual acuity, refractive errors, corneal higher-order aberrations (HOA) and corneal thickness obtained using a Scheimpflug system, and central ablation depth and volume were evaluated during the preoperative period and again at the postoperative 6-month visits. Results: Postoperatively, uncorrected distance visual acuity, corrected distance visual acuity, manifest spherical equivalent, and refractive astigmatism were improved in both groups, and there was no statistically significant difference between the two groups. There was no significant difference in safety, efficacy, or predictability of the refractive outcome. Postoperative total corneal HOA root mean square (RMS), coma RMS, and spherical aberration were significantly increased in both groups. Among these, only spherical aberration showed a significant difference between the two groups, with greater increase in the WFO group at 6 months postoperatively. The changes in corneal HOA RMS and spherical aberration were smaller in the WFG group, and this benefit was marked in eyes with high HOA RMS (≥0.4 μm) and spherical aberration (≥0.2 μm). Even though ablation volume in the WFG group was much larger than that of the WFO group, there was no significant difference in postoperative central and peripheral corneal thickness between the two groups. Conclusions Both WFO and WFG PRK using a Schwind Amaris 750S laser for low to moderate myopia were safe and effective at improving visual and refractive outcomes. However, WFG PRK induced fewer spherical aberrations than WFO PRK and may be more advantageous for eyes with high HOA root mean square or spherical aberration.

Adenocarcinoma of small intestine is rare disease, but its incidence of iluem is the least of small intestinal adenocarcinoma. Its rarity and vague symptoms results in delayed diagnosis, treatment and poor prognosis, Recently we experienced a 65 years old man of ileal adenocarcinoma with liver metastasis, which does not obstuct intestinal lumen, We treat the metastatic tumor with chemoembolization(lipiodol and doxorubicin) through the hepatic artery and so we report the case with review of literature.
Adenocarcinoma ; Aged ; Delayed Diagnosis ; Hepatic Artery ; Humans ; Incidence ; Intestine, Small ; Liver ; Neoplasm Metastasis* ; Prognosis ; Rare Diseases

No abstract available.
Reflex Sympathetic Dystrophy* ; Reflex*

PURPOSE: To report the clinical efficacy and safety of progressive keratoconic eyes in Korean patients treated with accelerated corneal cross-linking. METHODS: This retrospective study focused on progressive keratoconic eyes in Korean patients that underwent accelerated corneal cross-linking from February 2015 to October 2015. Keratoconus was diagnosed in 45 eyes in 30 patients. After accelerated corneal cross-linking with VibeX rapid solution, best corrected visual acuity, maximum keratometry, mean keratometry, corneal thickness, corneal astigmatism, and endothelial cell count were measured at the preoperative visit and post operation 1 week, 1 month, 3 months, and 6 months. RESULTS: Best corrected visual acuity (log MAR) was 0.51 ± 0.23 at pre operation and 0.51 ± 0.26 at post operation 6 months, showing no improvement. The maximum keratometry measured with Auto K, Pentacam, and Orbscan II at pre operation was 49.11 ± 4.5 D, 48.37 ± 3.31 D, and 48.98 ± 4.88 D and changed to 49.29 ± 4.34 D, 46.99 ± 3.63 D, and 47.01 ± 3.62 D postoperatively, respectively. Only Pentacam and Orbscan II measurements showed a statistically significant decrease (p < 0.05). Corneal thickness (at the thinnest area) was measured with Pentacam and Orbscan II; pre-operative and post-operative 6 month data showed changes from 485 ± 26.27 and 479.24 ± 27.89 to 471.64 ± 27.12 and 472.52 ± 25.36, respectively. Only the Pentacam method resulted in a statistically significant decrease. Endothelial cell count was measured with confocal microscopy and showed a statistically significant difference between pre-operative 2,857 ± 390.49/mm² and post-operative 6 month 2,639.21 ± 249.92/mm². CONCLUSIONS: This 6-month follow-up study of Korean keratoconus patients who underwent accelerated corneal cross-linking indicates that the method is effective in stabilizing the progression of keratoconus, according to maximum keratometry change. With regard to endothelial cell count change, further long-term evaluation is required. Other than endothelial cell count change, this procedure is expected to show long-term safety comparable to that of conventional corneal cross-linking.
Astigmatism ; Collagen* ; Endothelial Cells ; Follow-Up Studies ; Humans ; Keratoconus* ; Methods ; Microscopy, Confocal ; Retrospective Studies ; Treatment Outcome ; Visual Acuity

PURPOSE: This study was to investigate symptom occurrence related to the disease characteristics of patients with cancer. METHOD: A total of 301 patients with cancer participated in this study. The participants were recruited from University Hospitals located in Seoul, Wonju, Kwangju, Daegu, and Pusan. Data collection was performed by using a questionnaire on symptom occurrence. The obtained data was analyzed using SPSS computer program that included descriptive statistics, Pearson correlation, one-way ANOVA, and t-test. 1) Yonsei University (Wonju College of Medicine) 2) Ajou University 3) Home Health-Hospice Research Institute at Yonsei University 4) Research Institute of Nursing Science at Chonnam National University 5) The Institute of Nursing Science at Kyungpook National University 6) Research Institute of Wholistic Nursing Science at Kosin University. RESULT: The mean score of fatigue was the highest (3.24), followed by loss of appetite, lack of concentration, change in appearance, pain, insomnia, change in bowel pattern, nausea/ vomiting, coughing, and dyspnea. Most symptoms were significantly correlated with each other. The level of symptom occurrence in patients with lung cancer or cervix cancer was significantly higher than the level in patients with stomach cancer. Patients receiving radiation therapy or a combined therapy of radiation therapy and chemotherapy experienced significantly higher level of symptom occurrence than those receiving chemotherapy only. Also, female patients experienced higher level of symptom occurrence than male patients did. CONCLUSION: The sites of cancer, types of treatment, and gender influence the level of symptom occurrence of patients with cancer. Thus, these variables should be considered when assessing and planing for symptom occurrence of patients with cancer.
Academies and Institutes ; Adult* ; Appetite ; Busan ; Cough ; Daegu ; Data Collection ; Drug Therapy ; Dyspnea ; Fatigue ; Female ; Gangwon-do ; Gwangju ; Gyeongsangbuk-do ; Hospitals, University ; Humans ; Jeollanam-do ; Lung Neoplasms ; Male ; Nursing ; Seoul ; Sleep Initiation and Maintenance Disorders ; Stomach Neoplasms ; Uterine Cervical Neoplasms ; Vomiting ; Surveys and Questionnaires

PURPOSE: We compared the ocular aberration and clinical outcome between different aspheric intraocular lenses (IOL) in both eyes. METHODS: This prospective randomized controlled study was comprised of patients with bilateral cataract who received two different aspheric IOLs implanted in both eyes: negatively aspheric Tecnis® ZCB00 and spherically neutral Akreos® MI60. Total and corneal aberrations computed by Wavescan® and Pentacam® were assessed at 6 months to investigate the effects of the IOL's spherical aberration on the eye and to analyze the incidence and degree of posterior capsule opacification. By using spherical aberration of the cornea and the IOLs, values calculated via Ray-tracing software and Wavescan® were compared. Total spherical aberration was analyzed by the MATLAB program and converting the pupil size to 6.0, 4.5, 3.0 mm. RESULTS: A total of 25 patients were included. Regarding pre-operative corneal aberration, ZCB00 group was 0.232 ± 0.119 µm while MI60 group was 0.240 ± 0.117 µm, and there was no difference between the two IOLs. At 6 months after total ocular spherical aberration, MI60 group (pupil size 6.0 mm; 0.296 ± 0.097 µm, 4.5 mm; 0.094 ± 0.032 µm, 3.0 mm; 0.019 ± 0.006 µm) had more positive values than ZCB00 group (pupil size 6.0 mm; 0.051 ± 0.105 µm, 4.5 mm; 0.009 ± 0.034 µm, 3.0 mm; 0.002 ± 0.007 µm) (p < 0.001). When calculated using the ray tracing method, based on the results after surgery, MI60 group's total spherical aberrations were higher than ZCB00 group. However, from 1 month to 6 months after surgery, the uncorrected distance visual acuity, spherical equivalent and posterior capsule opacification showed no differences between the two IOLs. CONCLUSIONS: In eyes with aspheric IOLs with negative spherical aberration, spherical aberration was lower than spherically neutral aspheric IOLs. Regarding postoperative visual acuity, spherical equivalent and posterior capsule opacification, there were no significant differences between the two groups.
Capsule Opacification ; Cataract ; Cornea ; Humans ; Incidence ; Lenses, Intraocular* ; Methods ; Prospective Studies ; Pupil ; Visual Acuity