A nineteen year-old boy with progressive enlargement of the joints and distal extremities, clubbing, coarse facial features and hyperhidrosis was investigated. In physical examination, thickening of the scalp with furrowing (cutis verticis gyrata) and greasy thickening of skin (pachyderma) was prominent. His endocrine profile was normal. Radiological studies demonstrated bilateral symmetrical periosteal new bone formation with acroosteolysis and incidental microadenoma of pituitay gland. After extensive investigation to exclude systemic and endocrine causes, the patient was diagnosed as pachydermoperiostosis (PDP). PDP is a rare syndrome manifested clinically by finger clubbing, extremity enlargement, hypertrophic skin changes, and periosteal bone formation. The pathogenesis of the disorder has not been clarified though few endocrine abnormalities were seen. To aware of these clinical phenotype would help to differentiate PDP from acromegaly.
Acro-Osteolysis ; Acromegaly ; Extremities ; Fingers ; Humans ; Hyperhidrosis ; Joints ; Male* ; Osteoarthropathy, Primary Hypertrophic* ; Osteogenesis ; Phenotype ; Physical Examination ; Scalp ; Skin ; Young Adult*

Guillain-Barre syndrome (GBS) is an autoimmune disease with an acute evolution of inflammatory demyelinating polyradiculoneuropathy. Although the precise immune mechanisms and involved antigens are uncertain, both humoral and cellular immune mechanisms are thought to be involved. Interactions between the various compartments of the immune system are governed by cytokines. Laboratory investigations have shown that immune activation can be quantified by measurement of cytokines and soluble immune activation products in serum. Interleukin-2(IL-2) is probably the best characterized among the many cytokines and soluble interleukin-2 receptor (sIL-2R) and neopterin are major immune activation products. In order to observe activities of cellular immunity of GBS, we measured serum concentrations of IL-2, sIL-2R and neopterin in 28 patients with GBS and in 22 healthy controls. Serial serum samples were drawn 2 to 25 days after motor onset of the disease, 2 to 3 days after treatment with plasmapheresis and 43-300days of follow-up. The occurences of IL-2 positive serum samples were 41.7%, 23.8% and 18.2% in each time in GBS but none in healthy controls. Initial serum sIL-2R and neopterin level were elevated in 21% and 17% of patients with GBS compared with healthy controls. After plasmapheresis, both serum sIL-2R and neopterin level were significantly elevated in GBS compared with initial serum samples and healthy controls. Thus, T-cell and macrophage activation may play a role in the pathogenesis of GBS. However, further study is needed to evaluate the effect of plasmapheresis and clinical severity on the serum concentration of IL-2, sIL-2R and neopterin in GBS.
Autoimmune Diseases ; Cytokines ; Follow-Up Studies ; Guillain-Barre Syndrome* ; Humans ; Immune System ; Immunity, Cellular ; Interleukin-2* ; Macrophage Activation ; Neopterin* ; Plasmapheresis ; Polyradiculoneuropathy ; Receptors, Interleukin-2* ; T-Lymphocytes

The physical activities of daily living are a final outcome of many functions and dependent on many factors. This study was aimed at exploring the relationships of motor function, dementia, education, age, and cognitive function to the physical activities of daily living in 67 elderly people residing in an institution in Taegu, Korea. Their mean ( +/- SD) age was 75.6 +/- 8.1 and 24 (35.8%) were men. Twenty-eight (41.8%) were classified as having definite cognitive impairment, 17 (25.4%) as having questionable impairment, and 22 (32.8%) as having no impairment by the Korean version of the mini-mental state examination. Of the aforementioned 5 variables, the Motoricity Index could account for 42% of the Barthel Activities of Daily Living variance. If the modified Blessed Dementia Rating Scale was included in the multiple regression, the accountable portion of the Activities variance increased by 4% only. Using the 2 variables, regression equation, y = 0.248 x chi 1-0.359 x chi 2-6.250 (y: Barthel Activities of Daily Living score, chi 1: Motoricity Index score, chi 2: modified Blessed Dementia Rating Scale score) could be produced. Conclusively, the physical activities of daily living of elderly people could be related mainly with motor function of the limbs and severity of dementia.
*Activities of Daily Living ; Age Distribution ; Aged ; Aged, 80 and over ; *Aging ; *Cognition ; *Education ; Female ; Human ; Male ; Middle Age ; *Motor Skills ; Regression Analysis ; Sex Distribution ; Support, Non-U.S. Gov't

PURPOSE: To report a case of masked glaucomatous optic nerve head damage due to acute swelling in a primary open-angle glaucoma patient. CASE SUMMARY: A healthy 21-year-old male visited our clinic complaining of blurred vision in the right eye for 1 week. The intraocular pressure (IOP) was 60 mmHg, as measured by a Goldmann applanation tonometer. No specific anterior segment finding other than severe corneal edema was found on slit lamp examination. Maximum tolerated medical therapy was performed, and a further examination was done 1 day after the IOP lowering. No glaucomatous change in the optic disc or retinal nerve fiber layer was observed on fundus examination and optical coherence tomography (OCT), but the optic disc of the right eye was more hyperemic than that of the left eye. A superonasal visual field defect was also observed using automated perimetry. After treatment, the IOP was kept within the normal range using IOP-lowering eye drops. However, an inferonasal retinal nerve fiber layer defect was observed on fundus examination and OCT, and a superonasal scotoma was detected by perimetry.
Corneal Edema ; Glaucoma, Open-Angle* ; Humans ; Intraocular Pressure ; Male ; Masks ; Nerve Fibers ; Ophthalmic Solutions ; Optic Disk* ; Optic Nerve* ; Reference Values ; Retinaldehyde ; Scotoma ; Slit Lamp ; Tomography, Optical Coherence ; Visual Field Tests ; Visual Fields ; Young Adult

PURPOSE: To assess the ability of the Sequential Organ Failure Assessment (SOFA) score to predict the prognosis and organ dysfunction in the paraquat poisoning. METHODS: We retrospectively evaluated 281 paraquat poisoning patients who arrived at Soonchunhyang University Cheonan Hospital between Sep 2007 and Dec 2008. Sixty eight patients (68) were excluded due to missing data. Finally, 213 patents were included in this study. We investigated the degree of paraquat exposure, the Glasgow coma scale, vital signs, blood laboratory tests, calculated SOFA score, and Yamaguchi Index on first hospital day. The prognostic prediction was compared between SOFA score and Yamaguchi Index. RESULTS: The urine dithionite test, the amount of paraquat ingestion, arrival interval, aerum paraquat, Glasgow coma scale, HCO3-, potassium, and creatinine were significantly different between survivors and non-survivors. The Hosmer and Lemeshow Goodness-of-Fitness test of SOFA score (p=0.419) and Yamaguchi Index (p=0.084) indicated a good model performance. In the logistic regression analysis, p values the SOFA score and for the Yamaguchi Index were lower than 0.05 and the odds ratios were 1.930 and 0.108. At c-statistics, the area under receiver operator characteristic curve of SOFA score was 0.807 and Yamaguchi Index was 0.865. 95% confidence SOFA score and Yamaguchi Index Intervals of did not include 0.5. CONCLUSION: The SOFA score on the first day of hospital visit could reliably describe organ dysfunction and could distinguish survivors and non-survivors with reliable accuracy, as well as the Yamaguchi Index did in the case of paraquat poisoning.
Creatinine ; Dithionite ; Eating ; Glasgow Coma Scale ; Humans ; Logistic Models ; Multiple Organ Failure ; Odds Ratio ; Paraquat ; Potassium ; Prognosis ; Retrospective Studies ; Survivors ; Vital Signs

Purpose: We present a case of anterior displacement of the lens-iris diaphragm associated with Vogt–Koyanagi–Harada (VKH) disease.Case summary: A 35-year-old woman presented with decreased vision in her right eye. Examination revealed corrected visual acuity of 0.6 in the right eye and 1.0 in the left eye. Intraocular pressure (IOP) was 14 and 16 mmHg in the right and left eye, respectively. Spherical equivalent (SE) was -17.25 D in the right eye and -9.75 D in the left eye. Slit lamp examination and three-dimensional anterior segment photography revealed anterior displacement of the lens-iris diaphragm in both eyes. Two days later, the left eye developed similar symptoms with an SE of -15.5 D. Fundus examination revealed serous retinal detachment and fluorescein fundus photography demonstrated focal leakage leading to the diagnosis of atypical VKH disease. The patient was treated with oral corticosteroids and her symptoms resolved after 3 weeks. The Final SE was -10.25 D in the right eye and -9.75 D in the left eye. Conclusions We suggest there is an association between atypical VKH and anterior lens-iris diaphragm displacement in the absence of elevated IOP; early myopic shift may be associated with this presentation. Therefore, patients with isolated lens-iris diaphragm displacement, particularly those without a history of medications should be monitored for the possibility of developing VKH disease.

Purpose: We present a case of anterior displacement of the lens-iris diaphragm associated with Vogt–Koyanagi–Harada (VKH) disease.Case summary: A 35-year-old woman presented with decreased vision in her right eye. Examination revealed corrected visual acuity of 0.6 in the right eye and 1.0 in the left eye. Intraocular pressure (IOP) was 14 and 16 mmHg in the right and left eye, respectively. Spherical equivalent (SE) was -17.25 D in the right eye and -9.75 D in the left eye. Slit lamp examination and three-dimensional anterior segment photography revealed anterior displacement of the lens-iris diaphragm in both eyes. Two days later, the left eye developed similar symptoms with an SE of -15.5 D. Fundus examination revealed serous retinal detachment and fluorescein fundus photography demonstrated focal leakage leading to the diagnosis of atypical VKH disease. The patient was treated with oral corticosteroids and her symptoms resolved after 3 weeks. The Final SE was -10.25 D in the right eye and -9.75 D in the left eye. Conclusions We suggest there is an association between atypical VKH and anterior lens-iris diaphragm displacement in the absence of elevated IOP; early myopic shift may be associated with this presentation. Therefore, patients with isolated lens-iris diaphragm displacement, particularly those without a history of medications should be monitored for the possibility of developing VKH disease.

Purpose: We present a case of anterior displacement of the lens-iris diaphragm associated with Vogt–Koyanagi–Harada (VKH) disease.Case summary: A 35-year-old woman presented with decreased vision in her right eye. Examination revealed corrected visual acuity of 0.6 in the right eye and 1.0 in the left eye. Intraocular pressure (IOP) was 14 and 16 mmHg in the right and left eye, respectively. Spherical equivalent (SE) was -17.25 D in the right eye and -9.75 D in the left eye. Slit lamp examination and three-dimensional anterior segment photography revealed anterior displacement of the lens-iris diaphragm in both eyes. Two days later, the left eye developed similar symptoms with an SE of -15.5 D. Fundus examination revealed serous retinal detachment and fluorescein fundus photography demonstrated focal leakage leading to the diagnosis of atypical VKH disease. The patient was treated with oral corticosteroids and her symptoms resolved after 3 weeks. The Final SE was -10.25 D in the right eye and -9.75 D in the left eye. Conclusions We suggest there is an association between atypical VKH and anterior lens-iris diaphragm displacement in the absence of elevated IOP; early myopic shift may be associated with this presentation. Therefore, patients with isolated lens-iris diaphragm displacement, particularly those without a history of medications should be monitored for the possibility of developing VKH disease.

Solid pseudopapillary tumor (SPT) of the pancreas is a rare tumor that typically affects young women without causing significant clinical symptoms. No case of SPT in an old man has been reported in South Korea, and such cases are very rare worldwide. We report a 70-year-old man with SPT of the pancreas with multiple organ metastasis. Although surgical resection is the treatment of choice for SPT, we decided not to treat, considering his age and the disease severity.
Aged ; Diagnosis ; Female ; Humans ; Korea* ; Neoplasm Metastasis ; Pancreas*

We describe a case of the juvenile form of Pompe's disease that presented as primary alveolar hypoventilation due to respiratory muscle involvement. This 17-year-old girl had been asymptomatic until this admission, although she had a delayed puberty. Arterial blood gas analysis, pulmonary function test as well as physical findings were compatible with chronic alveolar hypoventilation syndrome. Since she had lower extremity muscle weakness and pseudomyotonic discharge on electromyography a muscle biopsy was done, which revealed glycogen storage disease. The patient was managed successfully with nasal intermittent positive pressure ventilation.
Adolescent ; Chronic Disease ; Female ; Glycogen Storage Disease Type II/*complications/pathology ; Humans ; Hypoventilation/*etiology/therapy ; Intermittent Positive-Pressure Ventilation ; Muscles/pathology ; Pulmonary Alveoli