There are many variant forms in Turner's syndrome which is characterized by female phenotype, short height, primary amenorrhea, infertility, abnormal secondary sexual development, and mental retardation. Among these 45,XO/46,XX/47,XXX form is known as rare variant of Turner's syndrome. 45,XO/46,XX/47,XXX mosaicism is characterized by normal height, possibility of normal sexual development, menstrual/pregnancy history and normal intelligence. We report a cse of 45,XO/46,XX/47,XXX Turner's syndrome associated with primary amenorrhea in 17-year old Korean female.
Adolescent ; Amenorrhea* ; Female ; Humans ; Infertility ; Intellectual Disability ; Intelligence ; Mosaicism* ; Phenotype ; Sexual Development ; Turner Syndrome

PURPOSE: The prevalence of developmental delay is 5-10% of the total pediatric population and early diagnosis and proper intervention are essential but a challenge for clinicians. We performed this study for several purposes. First is to know the distribution & characteristics of developmental disorders in Korea. Second is to identify all possible causes of these disorders through a multidisciplinary diagnostic approach, and thus to find out the clinical variables that are helpful in finding the etiology. And finally to develop a useful protocol that eliminates the cost of unnecessary tests and raises the diagnostic rate of the cause. METHODS: 518 patients(M 349, F 169) were studied who visited Ilsan Hospital Developmental Disorder Clinic(DDC) for the evaluation of developmental delay from April 2001 to Jan 2005. RESULTS: The mean age was 51.5+/-32.9 months, ranging from 2 months to 16.0 years of age with a majority of the preschool children(<6 yr)(79.3%). Phenomenological diagnosis consisted of 133 cases of mental retardation, 122 cases of autistic disorders, 101 cases of delayed language disorders, 27 cases of cerebral palsies, and 91 cases labeled as simple developmental delay requiring follow up due to age less than 2 years of age. Etiologic diagnosis was obtained in 119 cases(22.9%) out the 518 cases of developmental delays. 37 cases of chromosomal anomalies, 23 cases of Periventricular leukomalacia and hypoxic ischemic encephalopathy, 21 cases of syndromes, 7 cases of malformation of cortical development, 4 cases of myopathies, 4 cases of neuropathies, and 4 cases of cerebral infarctions were found. Among the clinical variables, low birth weight, facial dysmorphism, hypotonia, focal neurologic signs, and abnormalities in MRI, chromosome, EEG and EMG studies contributed to the yields of etiologic diagnosis significantly. CONCLUSION: Possible etiology was determined in about 23% of the subjects. The most important part of the assessment for the identification of etiology is thorough history taking, physical and neurologic examination. Neuroimaging study is useful in case of micro or macrocephaly, focal neurologic signs. Genetic studies increasingly produce a yield, when there is family history of inherited disorder and there are dysmorphic features. Routine metabolic screening test has limited utility. Development of a useful screening protocol adequate for Korean situation is required.
Cerebral Infarction ; Diagnosis ; Early Diagnosis ; Electroencephalography ; Follow-Up Studies ; Humans ; Hypoxia-Ischemia, Brain ; Infant, Low Birth Weight ; Infant, Newborn ; Intellectual Disability ; Korea ; Language Disorders ; Leukomalacia, Periventricular ; Macrocephaly ; Magnetic Resonance Imaging ; Mass Screening ; Muscle Hypotonia ; Muscular Diseases ; Neuroimaging ; Neurologic Examination ; Neurologic Manifestations ; Paralysis ; Prevalence

PURPOSE: We investigated the clinical manifestations of combination therapy with photodynamic therapy (PDT) and intravitreal bevacizumab in idiopathic macular telangiectasia type I patients. METHODS: The present study included 7 patients who visited our clinic from May 2008 to February 2011 complaining of decreasing visual acuity and diagnosed as idiopathic macular telangiectasia type I including visible aneurysms at juxtafoveal area and telangiectatic vessels leakage based on fluorescein angiography. Additionally, all patients were treated with combination therapy with PDT and intravitreal bevacizumab. RESULTS: Visual acuity improved from 0.48 ± 0.14 (log MAR) to 0.18 ± 0.17 (log MAR) after the combination therapy, however, there was no change in intraocular pressure between before (17.9 ± 3.1) and after (16.8 ± 2.3) therapy. After combination therapy, fluorescein angiography showed decreased leakage of telangiectatic vessels and optical coherence tomography showed only minimal intraretinal edema. Central subfield macular thickness decreased from 301.9 ± 50.7 μm to 193.6 ± 58.8 μm after the combination therapy. CONCLUSIONS: Combination therapy with intravitreal bevacizumab injection and PDT in patients with idiopathic macular telangiectasia type I can result in a rapid decrease of macular edema, which can lead to rapid visual recovery.
Aneurysm ; Bevacizumab* ; Edema ; Fluorescein Angiography ; Humans ; Intraocular Pressure ; Macular Edema ; Photochemotherapy* ; Telangiectasis* ; Tomography, Optical Coherence ; Visual Acuity

PURPOSE: Clinically, acute respiratory distress syndrome (ARDS) occurs within 72 hours after acute exposure of risk factors. Because of its high fatality rate once ARDS progresses, early detection and management are essential to reduce the mortality rate. Accordingly, studies on early changes of ARDS were started, and serum ferritin, as well the as injury severity score (ISS), which has been addressed in previous studies, thought to be an early predictive indicator for ARDS METHODS: From March 2003 to March 2005, we investigated 50 trauma patients who were admitted to the intensive care unit in Dongguk University Medical Center, Gyeongju. The patients were characterized according to age, sex, ISS, onset of ARDS, time onset of ARDS, serum ferritin level (posttraumatic 1st & 2nd day), amount of transfused blood, and death. Abdominal computed topography was performed as an early diagnostic tool to evaluate the onset of ARDS according to its diagnostic criteria. The serum ferritin was measured by using a VIDAS(R) Ferritin (bioMeriux, Marcy-1' Etoile, France) kit with an enzyme-linked fluorescent assay method. For statistical analysis, Windows SPSS 13.0 and MedCalc were used to confirm the probability of obtaining a predictive measure from the receiver operating characteristics (ROC) curve. RESULTS: The ISS varied from 14 to 66 (mean: 33.8) whereas the onset of ARDS could be predicted with the score above 30 (sensitivity: 90.0%, specificity: 60.0%, p<0.05). On the posttraumatic 1st day, the serum ferritin levels were measured to be from 31 mg/dL to 1,200 mg/dL (mean: 456 mg/dL), and the onset of ARDS could be predicted when the value was over 340 mg/dL (sensitivity: 80.0%, specificity: 65.0%, p<0.05). On the posttraumatic 2nd day , the serum ferritin levels were measured to be from 73 mg/dL to 1,200 mg/dL (mean: 404 mg/dL), and the onset of ARDS could be predicted when the value was over 627 mg/dL (sensitivity: 60.0%, specificity: 92.5%, p<0.05). The serum ferritin levels and the ISS were significantly higher on the posttraumatic 1st and 2nd day in the ARDS group, suggesting that they are suitable indices predicting the onset of ARDS, however relationship between the serum ferritin levels and the ISS was not statistically significant. CONCLUSION: In this study, we discovered increasing serum ferritin levels in multiple- trauma patients on the posttraumatic 1st & 2nd day and concluded that both the serum ferritin level and the ISS were good predictors of ARDS. Although they do not show statistically significant relationship to each other, they can be used as independent predictive measures for ARDS. Since ARDS causes high mortality, further studies, including the types of surgery and the methods of anesthesia on a large number of patients are essential to predict the chance of ARDS earlier and to reduce the incidence of death.
Academic Medical Centers ; Anesthesia ; Ferritins* ; Gyeongsangbuk-do ; Humans ; Incidence ; Injury Severity Score ; Intensive Care Units ; Mortality ; Multiple Trauma* ; Respiratory Distress Syndrome, Adult* ; Risk Factors ; ROC Curve ; Sensitivity and Specificity

No abstract available.
Carcinoid Tumor* ; Lymph Nodes* ; Neoplasm Metastasis*

Vocal cord paralysis is a comlex disorder which may result from numerous causes. It is often associated with trauma, disease in adjacent tissue, or a generalized neuroligical disorder. Laryngeal EMG is a useful technique for vocal cord paralysis. However it has not been used due to the uncertainties of normal human vocal cord physiology and the technical difficulties in performing these studies. We investigated the pathophysiology of vocal cord paralysis with laryngeal electromyography(LEMG). We studied 20 patients with idiopathic vocal cord paralysis. 6 patients were denervated in the cricothyroid(CT) and 6 patients in the thyroarytenoid(TA), and 3 patients in both CT and TA muscles. These indicated superior laryngeal neuropathy, recurrent laryngeal neuropathy, and proximal laryngeal or vagus neuropathy, respectively. LEMG proved to be a safe and effective procedure in the diagnosis of laryngeal neuropathy, and make it possible to use electromyography as a routine procedure in diagnosis laryngeal paralysis.
Diagnosis ; Electromyography* ; Humans ; Muscles ; Physiology ; Vagus Nerve Diseases ; Vocal Cord Paralysis* ; Vocal Cords*

Tumor necrosis factor alpha (TNF-alpha) inhibitors are used widely to treat patients with active rheumatoid arthritis and ankylosing spondylitis (AS). Although various cutaneous reactions can occur as side effects of TNF-alpha inhibitors, systemic vasculitis requiring withdrawal of the agent and immunosuppressive drugs is rare. A 59-year-old male with AS who had been treated with infliximab for 60 months visited us with complaints of palpable purpura on both legs and severe abdominal pain. Abdominal computed tomography showed diffuse wall thickening of the proximal jejunum and ileum and a skin biopsy revealed leukocytoclastic vasculitis. The patient was diagnosed with Henoch-Schonlein purpura (HSP). Infliximab was discontinued and systemic steroid therapy at 0.5 mg/kg resulted in prompt resolution of the HSP. Here, we report the first case of HSP in a patient with AS after infliximab treatment.
Abdominal Pain ; Antibodies, Monoclonal ; Arthritis, Rheumatoid ; Biopsy ; Humans ; Ileum ; Jejunum ; Leg ; Male ; Purpura ; Purpura, Schoenlein-Henoch ; Skin ; Spondylitis, Ankylosing ; Systemic Vasculitis ; Tumor Necrosis Factor-alpha ; Vasculitis ; Vasculitis, Leukocytoclastic, Cutaneous

No abstract available.
Niemann-Pick Disease, Type A*

BACKGROUND: Sorbitol fermenting Escherichia coli O157 were reported. And E. coli O157:H7 produce various Shiga toxin (Stx) such as Stx1, Stx2, or variants of Stx2. In this study, we tried to establish laboratory methods that detect E. coli O157:H7 quickly and precisely by analyzing sensitivity of colony hybridization test and PCR technique. METHODS: Stx1-producing E. coli ATCC 43890, Stx2-producing E. coli ATCC 43889, and Stx2vha- producing E. coli ATCC 51435 were tested. Three strains of E. coli were diluted with 0.1 g of diarrheal stools from 107 CFU to 101 CFU respectively. The stool samples were incubated overnight in MacConkey agar plates. A mean of 63 colonies were hybridized by stx1- and stx2-specific oligonucleotide probes. PCR for stx1 gene and stx2 gene was done after overnight- incubation of stool samples in the LB broth with vancomycin (6 ug/mL). Positive colonies by colony hybridization were confirmed by PCR for stx1 gene and stx2 gene. RESULTS: Colony hybridization test could detect Stx1-producing E. coli at 103 CFU per 0.1 g of stool, Stx2-producing E. coli at 105 CFU per 0.1 g of stool, and Stx2vha-producing E. coli at 104 CFU per 0.1 g of stool. PCR technique after enrichment in LB broth with vancomycin (6 ug/mL) could detect stx1-, stx2-, and stx2vha-containing E. coli at 10 CFU per 0.1 g of stool respectively. CONCLUSOIN: A combination of colony hybridization and PCR after enrichment in broth with vancomycin (6 ug/mL) is useful for the rapid and precise diagnosis of infections of Shiga toxin-producing E. coli O157:H7.
Agar ; Diagnosis ; Escherichia coli O157 ; Escherichia coli* ; Escherichia* ; Oligonucleotide Probes ; Polymerase Chain Reaction ; Shiga Toxin ; Sorbitol ; Vancomycin

PURPOSE: To analyze the overall clinical outcome, overall assessment, and patient's satisfaction rate of subtalar arthrodesis using the cannulated compression screw. MATERIALS AND METHODS: This study is based on 17 patients, 17 feet who underwent subtalar arthrodesis using the cannulated compression screw from March, 1997 to March, 2004 with at least 1 year follow-up. The average follow-up period was 33.0 months (12 to 72 months). Functional results were assessed using the American Orthopaedic Foot and Ankle Society Ankle-Hindfoot (AOFAS) score, and Visual Analysis Scale (VAS) pain score, patients' returning to previous occupation and patients' satisfaction rate were also evaluated. RESULTS: The mean AOFAS scores at final follow-up were 80.4 points (range 66~92). The satisfactory rates were as follow. Thirteen patients (76.4%) were at least satisfied with surgical result at final follow-up. Patients' VAS pain score was average 2.8 points (1~6). Fourteen (82.3%) patients returned to previous job at mean postoperative period of 11.3 months (range 3-18 months). Patients' work efficiency after returning to previous occupation was 68.7% (range 33~100%). There were 9 complications which were 3 cases of sural nerve injury, 1 case of valgus malunion, and 5 cases of the hindfoot residual pain. CONCLUSION: We obtained the satisfactory functional results with relatively high patient satisfaction rate of 76%. So we conclude that subtalar arthrodesis using the cannulated compression screw is a reliable method for addressing the painful end-stage subtalar osteoarthritis and unreconstructible comminuted calcaneal fractures. However we also found out that average 11 months were necessary for patients to return to their job.
Ankle ; Arthrodesis* ; Follow-Up Studies ; Foot ; Humans ; Occupations ; Osteoarthritis ; Patient Satisfaction ; Postoperative Period ; Sural Nerve