Familial hemophagocytic lymphohistiocytosis (FHL) is a rare disease characterized by fever, hepatosplenomegaly, cytopenia and non-malignant lymphohistiocytic infiltration with hemophagocytosis in reticulendothelial organs. We experienced three cases of FHL in identical male twins and their younger brother who presented with fever and severe hepatosplenomegaly. Cytopenia, elevated serum transaminase and low serum albumin levels, hypertriglyceridemia were common laboratory findings of them. One of them showed markedly decreased phytohemagglutinin induced lymphocyte proliferation and reversed CD4/CD8 ratio (0.52) in flowcytometric lymphocyte subset analysis. Aspirate of bone marrow revealed typical features consistent with FHL in two of them. In spite of recent therapeutic approaches, none of them survived.
Bone Marrow ; Fever ; Humans ; Hypertriglyceridemia ; Lymphocyte Subsets ; Lymphocytes ; Lymphohistiocytosis, Hemophagocytic* ; Male ; Rare Diseases ; Serum Albumin ; Siblings

BACKGROUND: The effectiveness for vagal stimulation by ice water aplication to face during metronome-controlled respiration of 15 breaths/minute was examed. The importance of basal vagal tone and sympathovagal interaction in the individual variability of responsiveness to the vagal stimulation was investigated. METHOD: Fifty three 12~13 year old healthy volunteers were included. Vagal tone and sympathovagal interaction before and after application of ice water to the face were assessed by power spectral analysis of RR interval(heart rate) variability. RESULT: Basal heart rate, high frequency power, and low to high frequency power ratio were 81+/-13(58~110 beats/min), 791+/-1061(56~4161 msec2) and 1.08+/-1.22(0.04~4.85) during controlled respiration. After ice water application twenty three children developed 5 more nodal escape beats due to severe bradycardia. Minimum heart rate, high frequency power and low to high power ratio changed to 42+/-12(19~72/min), 1890+/-1882(221~7258msec2) and 0.64+/-0.43(0.12~1.46). The increased ratio of high frequency power, maximum heart rate decrement and its percent after stimulation were 5.44+/-5.62(0.63~24.26), 39+/-14(10~81/min) and 47+/-15(16~81%) respectively. The increased ratio of high frequency power was correlated with basal logarithmic high frequency power(r=-0.60, p=0.0004). Maximum heart rate decrement was correlated with basal logarithmic high frequency power(r=-0.41, p=0.0018) and low to high frequency power ratio(r=0.27, p=0.04). CONCLUSION: Application of ice water to the face during controlled respiration produces powerful vagal stimulation and bradycardia, however, there is a wide individual variability of responsiveness to it. The absolute basal vagal tone contribute to this individual variability.
Bradycardia ; Child ; Healthy Volunteers ; Heart Rate* ; Heart* ; Humans ; Ice* ; Respiration* ; United Nations ; Water*

No abstract available.
Bronchi* ; Carcinoma, Mucoepidermoid*

Purpose: To investigate risk factors of age-related macular degeneration (AMD) with routine health check-up data. Methods: Among 9,019 patients older than 40 years who underwent a routine health checkup at a single institution of South Korea from January to December 2017, 7,018 patients were enrolled in this retrospective study. An additional 2,001 patients were accepted, due to the absence of a fundus photo or having a fundus photo of poor quality. Results: Among 7,018 patients, 183 patients were diagnosed with AMD. We diagnosed 104 patients with early-phase, 75 patients with intermediate-phase, and 4 patients with late-phase AMD. The AMD groups were compared to a control group using one-way analysis of variance. The control, early, and intermediate groups showed meaningful differences with respect to age. In propensity score matching for age and sex, no differences were observed with respect to blood pressure, body mass index, or weight; however, significant differences were evident for the parameters of hepatitis B surface antigen, alkaline phosphatase, platelet, erythrocyte sedimentation rate, gamma glutamyl transferase, high density lipoprotein (HDL), carcinoembryonic antigen (CEA), C-reactive protein (CRP), status of exercise, drinking, and smoking between the control and AMD groups. In multiple logistic regression analyses with relevant factors, a strong positive relationship was established for hepatitis B surface antigen, HDL, CRP and CEA elevation, absence of exercise, and current smoking in AMD patients. Conclusions Risk for AMD was strongly correlated with hepatitis B surface antigen, elevation of HDL, CEA and CRP in blood tests, the absence of exercise, and a history of smoking.

No abstract available.
Cutaneous Fistula ; Fistula*

The Wada test was performed for lateralization of language and memory function, using intracarotid injection of Sodium Amytal. But, the internal carotid artery(ICA) Wada test has some limitations for testing memory function. The posterior cerebral artery(PCA) Wade test has been designed to modify to modify the ICA Wada test for testing memory function selectively. In our study, 10 patients out of 12 patients with intractable seizure underwent only the ICA Wada test and the other 2 patients underwent both are ICA and the selective PCA Wada test In all 12 patients undergoing the ICA Wada test, we succesfully localized speech and language dominace. Four of 12 patients who underwent the ICA Wada test for evaluation of memory function displayed superior memory functions in one hemisphere, but the other hemisphere also significantly contributed to memory. The selective PCA Wada test, performed in 2 patients, showed successful results of memory function test in both patients. Four of 12 patients underwent temporal lobectomy and there was no major post-operative language or memory deficits. We conclude that the ICA and PCA Wada tests are useful for preoperative evaluation of medically intractable epilepsy, and the PCA Wada test is valuable in memory evaluation in some patients who have hight risk of postoperative global amnesia after temporal lobectomy following equivocal results of memory function by the ICA Wada test.
Amnesia ; Amobarbital ; Drug Resistant Epilepsy* ; Humans ; Memory Disorders ; Memory* ; Passive Cutaneous Anaphylaxis ; Seizures

The evaluation of pigmentary skin lesions by clinical doctors has been based on subjective and qualitative judgements. Observations have mostly relied on visual inspection, making the effects of treatment difficult to evaluate with any precision. For this reason there is a real need for an objective method to evaluate prognosis after treatment. Recent scientific measurements such as reflectance spectrophotometry and reflectance colorimetry have provided accurate quantitative color information about skin lesions, but these techniques are costly and difficult to apply in the clinical field. The purpose of this study was to develop a simple and cost-effective way of evaluating treatment results. We have developed a software program using the L*a*b* color coordinate system to quantify the effect of treatment and have successfully demonstrated its clinical usefulness. Our method compares the relative color difference between normal skin and skin lesions before and after treatment, instead of measuring the absolute color of skin lesions. The accuracy of our quantitative color analysis was confirmed by the simulated images of hemangioma and ota nevus. Clinical efficacy was also confirmed through a blind test involving 3 clinicians who were asked to grade the treatment effects of 13 cases of hemangioma and 7 cases of ota nevus. These subjective clinical grades correlated well with the treatment results obtained using the proposed color analysis system (Correlation coefficient = 0.84).
Color* ; Female ; Hemangioma/therapy ; Hemangioma/pathology ; Human ; Nevus of Ota/therapy ; Nevus of Ota/pathology ; Outcome Assessment (Health Care)/methods* ; Pigmentation Disorders/therapy* ; Pigmentation Disorders/pathology* ; Skin Neoplasms/therapy ; Skin Neoplasms/pathology ; Skin Pigmentation* ; Software*

PURPOSE: To evaluate clinical outcomes after combined descemet-stripping endothelial keratoplasty (DSEK) and intraocular lens (IOL) exchange in a Korean population. METHODS: The medical records of 15 patients (15 eyes) with pseudophakic bullous keratopathy who underwent combined DSEK and IOL exchange from January 2011 to January 2015 and who were followed up for more than 12 months were reviewed retrospectively. RESULTS: In 14 eyes with successful results after surgery, the best corrective visual acuity (BCVA) was significantly improved from 2.01 ± 0.96 (log MAR, mean) to 0.68 ± 0.26 at 3 months (p = 0.001) except for one eye that received reoperation on the endothelial disc detachment. The BCVA at postoperative 6 and 12 months gradually increased (0.51 ± 0.26 and 0.40 ± 0.22 log MAR, mean). Central corneal thickness was significantly improved from 777 ± 139 µm to 605 ± 28 µm at 6 months (p = 0.003) and was maintained at 12 months. The mean endothelial cell count was 2,973 ± 281/mm2 in the donor lenticules and 1,790 ± 265/mm2 at 12 months. Endothelial cell loss was 40%. The target refraction was -0.81 ± 0.16 D and the 12 months postoperative spherical equivalent was -0.28 ± 0.36 D. Complications included intraocular pressure elevation in one eye and pupillary capture in one eye. CONCLUSIONS: Combined DSEK and IOL exchange may be a very efficient and safe option for surgically managing pseudophakic bullous keratopathy.
Corneal Transplantation* ; Endothelial Cells ; Humans ; Intraocular Pressure ; Lenses, Intraocular* ; Medical Records ; Reoperation ; Retrospective Studies ; Tissue Donors ; Visual Acuity

PURPOSE: To evaluate the correlation between abnormal findings seen in anterior segment optical coherent tomography and the recurrence rate in patients with recurrent corneal erosion syndrome. METHODS: Between January 2015 and August 2018, 53 eyes of 52 patients who had been diagnosed with recurrent corneal erosion syndrome were included in the study. Follow-up was performed for 12 months. To confirm the recurrence, we questioned the subjects on their symptoms and performed slit lamp examinations. At the first visit, the second week, and the first month, we performed anterior segment optical coherent tomography to identify pathologic findings for recurrent corneal erosion syndrome. RESULTS: In 12 months, 29 eyes (54.7%) had a recurrence of corneal erosion and 24 eyes (45.3%) had no recurrence. There was no significant difference in age, sex, trauma, diabetes mellitus, or meibomian gland dysfunction between the recurrent and non-recurrent groups. Among the anterior segment optical coherent tomography findings, anterior stromal hyper-reflectivity, undetected epithelial basement membrane, intraepithelial basement membrane, intraepithelial inclusions were not significantly different between the two groups. In the first month, corneal epithelial edema was 82.8% in the recurrent group, but 33.3% in the non-recurrent group. It was significantly different (p = 0.000). Corneal epithelial thickness lowered significantly in the non-recurrent group, but not in the recurrent group in the first month. In other words, epithelial edema improved in the non-recurrent group, whereas epithelial edema did not improve in the recurrent group. CONCLUSIONS If corneal epithelial edema is not treated in patients with recurrent corneal erosion syndrome, high possibility of a recurrence should be considered.

Lymphangioleiomyomatosis(LAM) is a rare disease of unknown etiology that occurs mainly in woman in her reproductive age. We recently experienced two cases of bilateral diffuse cystic lesion of the lung on chest X-ray and HRCT. The first case, a 26-year-old female, who had been diagnosed with tuberous sclerosis be the presence of clinical manifestation such as mental retardation, bilateral renal angiomyolipoma, adenoma sebaceum and generalized seizure, was admitted due to recently developed hemoptysis. Chest PA showed diffuse ground-glass opacity with radiolucent cystic lesions of various sizes on both lung fields. HRCT showed innumerable small cystic lesions with suspicious diffuse ground-glass opacity on both lung fields. The second case, a 30-year-old female was admitted due to dyspnea and spewing of blood-tinged sputum for 2 weeks, shortly after delivery. Chest PA showed diffuse reticular and ground-glass opacities on both lung field. HRCT showed multiple well-difined and relatively uniform size air cysts with a uniform wall thickness on entire both lung fields, with small amount of right pleural effusion. By thoracoscopic lung biopsy she was diagnosed with pulmonary lymphangioleiomyomatosis. We report these cases with a brief review of the literatures.
Adult ; Angiomyolipoma ; Biopsy ; Dyspnea ; Female ; Hemoptysis ; Humans ; Intellectual Disability ; Lung ; Lymphangioleiomyomatosis ; Pleural Effusion ; Rare Diseases ; Seizures ; Sputum ; Thorax ; Tuberous Sclerosis