Sporadic spastic paraplegia (SSP) and hereditary spastic paraplegia (HSP) belong to a clinical and genetically heterogeneous group of disorders characterized by progressive spasticity and weakness in the lower extremities. The symptoms are associated with pyramidal tract dysfunction and degeneration of the corticospinal tracts. Parkinsonism is uncommon in SSP/HSP patients. However, both disorders are associated with damage to the nigrostriatal dopaminergic system. In the present study, the clinical features of patients with SSP/HSP were investigated, and nigrostriatal dopaminergic binding potential was assessed using dopamine transporter (DAT) single-photon emission computer tomography (SPECT). Nine patients with spastic paraplegia participated in the present study. The subjects underwent DAT SPECT using the agent [2-[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo[3,2,1]oct-2-yl]methyl](2-mercaptoethyl)amino]ethyl]amino]ethanethiolato (3-)-N2,N20,S2,S20]oxo-[IR-(exo-exo)])-[99mTc]technetium ([99mTc]TRODAT-1). The [99mTc]TRODAT-1 SPECT images of five patients appeared normal, whereas the images of four patients revealed reduced striatal ligand uptake. Among the four patients with reduced uptake, two had parkinsonism, and one exhibited periodic limb movements and restless leg syndrome. Our DAT SPECT imaging study shows that reduced DAT density may be observed in patients with parkinsonism. The results of the present study offer an explanation for the spectrum of spastic paraplegia symptoms and the progression of the disorder.
Adult ; Aged ; Brain/*radionuclide imaging ; Dopamine Plasma Membrane Transport Proteins/metabolism ; Female ; Humans ; Male ; Middle Aged ; Organotechnetium Compounds/diagnostic use ; Paraplegia/diagnosis/genetics/*radionuclide imaging ; Parkinsonian Disorders/complications/genetics/*radionuclide imaging ; Pyramidal Tracts ; Radiopharmaceuticals/diagnostic use ; Spastic Paraplegia, Hereditary/diagnosis/genetics/*radionuclide imaging ; Tomography, Emission-Computed, Single-Photon

Swallowing caustic materials may produce full-thickness burn and loss of esophageal function. Caustics, both acid and alkalis, can corrode and destroy living tissue. Full-thickness burn of esophiageal epithelium causes severe stricture which frequently requires surgical repair. Recently, non-operative dilatation of luminal stenosis has been utilized. Esophageal endoscopic endoprosthesis has been used widely in malignant esophageal stricture but not in benign stricture. In recurrent benign esophageal stricture following repetitive balloon dilatation, we experienced a case of an 18-year-old woman with severe stricture which was successfully managed by esophageal endoprosthesia So we report this case with the review of the literature.
Adolescent ; Alkalies ; Burns ; Caustics ; Constriction, Pathologic ; Deglutition ; Dilatation ; Epithelium ; Esophageal Stenosis* ; Female ; Humans ; Lye* ; Phenobarbital

Swallowing caustic materials may produce full-thickness burn and loss of esophageal function. Caustics, both acid and alkalis, can corrode and destroy living tissue. Full-thickness burn of esophiageal epithelium causes severe stricture which frequently requires surgical repair. Recently, non-operative dilatation of luminal stenosis has been utilized. Esophageal endoscopic endoprosthesis has been used widely in malignant esophageal stricture but not in benign stricture. In recurrent benign esophageal stricture following repetitive balloon dilatation, we experienced a case of an 18-year-old woman with severe stricture which was successfully managed by esophageal endoprosthesia So we report this case with the review of the literature.
Adolescent ; Alkalies ; Burns ; Caustics ; Constriction, Pathologic ; Deglutition ; Dilatation ; Epithelium ; Esophageal Stenosis* ; Female ; Humans ; Lye* ; Phenobarbital

No abstract available in English.
Biofeedback, Psychology* ; Female ; Humans

Pseudohypoparathyroidism (PHP) is a rare clinical type of hypoparathyroidism. The patients with PHP show classic clinical and biochemical features of hypoparathyroidism, but elevated serum level of parathyroid hormone (PTH) and characteristic physical appearances termed 'Albright's hereditary osteodystrophy' (AHO). PHP is classified into types Ia, Ib, Ic and II according to the presence of AHO phenotype and the mechanism of PTH resistance. We experienced a case of PHP in a 12 year-old girl with carpopedal spasm, syncope and partial AHO. She showed very low serum calcium level (1.4 mmol/L), high phosphorus level (3.62 mmol/L) and high immunoreactive PTH level (186.6 ng/L). In the Ellsworth-Howard test, urinary cyclic adenosine monophosphate and phosphorus levels after an exogenous PTH injection remained unchanged. Therefore, we were able to classify the patient as either PHP type Ia or Ic. After the patient had been treated with daily calcium carbonate (1 g), cholecalciferol (250 IU) and calcitriol (0.5 microgram), her neurological signs and symptoms as well as her biochemical abnormalities of hypocalcemia and hyperphosphatemia were improved.
Adenosine Monophosphate ; Calcitriol ; Calcium ; Calcium Carbonate ; Child ; Cholecalciferol ; Female ; Humans ; Hyperphosphatemia ; Hypocalcemia ; Hypoparathyroidism ; Parathyroid Hormone ; Phenotype ; Phosphorus ; Pseudohypoparathyroidism* ; Spasm ; Syncope

Pseudohypoparathyroidism (PHP) is a rare clinical type of hypoparathyroidism. The patients with PHP show classic clinical and biochemical features of hypoparathyroidism, but elevated serum level of parathyroid hormone (PTH) and characteristic physical appearances termed 'Albright's hereditary osteodystrophy' (AHO). PHP is classified into types Ia, Ib, Ic and II according to the presence of AHO phenotype and the mechanism of PTH resistance. We experienced a case of PHP in a 12 year-old girl with carpopedal spasm, syncope and partial AHO. She showed very low serum calcium level (1.4 mmol/L), high phosphorus level (3.62 mmol/L) and high immunoreactive PTH level (186.6 ng/L). In the Ellsworth-Howard test, urinary cyclic adenosine monophosphate and phosphorus levels after an exogenous PTH injection remained unchanged. Therefore, we were able to classify the patient as either PHP type Ia or Ic. After the patient had been treated with daily calcium carbonate (1 g), cholecalciferol (250 IU) and calcitriol (0.5 microgram), her neurological signs and symptoms as well as her biochemical abnormalities of hypocalcemia and hyperphosphatemia were improved.
Adenosine Monophosphate ; Calcitriol ; Calcium ; Calcium Carbonate ; Child ; Cholecalciferol ; Female ; Humans ; Hyperphosphatemia ; Hypocalcemia ; Hypoparathyroidism ; Parathyroid Hormone ; Phenotype ; Phosphorus ; Pseudohypoparathyroidism* ; Spasm ; Syncope

OBJECTIVE: It is important to identify and treat ADHD children early to prevent secondary academial and emotional problem. The Purpose of this study is to investigate the reliability and validity of Korean parent and teacher ADHD Rating Scale. METHOD: First to sixth graders in two elementary schools in Anyang City participated in this study. Teachers and parents completed ADHD Rating Scale. Additionally parents completed K-CBCL and Conners scale. Descriptive statistics, correlation, t-test and analysis of variance were performed. RESULT: A total of 1044 students participated in this study. Correlation of rater reliabilities between parent and teacher was significantly close. And Internal consistency by age was high. As correlations among ARS, K-CBCL, Conners scale were high, the ARS scores can be validated. CONCLUSION: Korean parent and teacher ADHD Rating Scale has high reliability and validity. This scale will be a useful tool for ADHD evaluations and diagnosis. A study of comparing clinical groups is suggested.
Child ; Diagnosis ; Gyeonggi-do ; Humans ; Parents* ; Reproducibility of Results*

Pituitary apoplexy is a clinical syndrome caused by an acute ischemic or hemorrhagic vascular accident. Although pituitary apoplexy is an emergency, it is often overlooked because it is rare and presents with various signs and symptoms, including those of neurologic and endocrine disorders. We describe a case of pituitary apoplexy misdiagnosed as aseptic meningitis accompanied by acute-onset headache and nausea, followed by fever. Subsequently, it was revealed as pituitary apoplexy by brain magnetic resonance imaging (MRI) performed when the clinical course worsened and ophthalmoplegia developed. We suggest that pituitary apoplexy be included in the differential diagnosis of patients presenting with headache or signs of meningeal irritation; when there is no clinical improvement, prompt steroid treatment should be started, while considering neurological decompression to prevent neurological sequelae.
Brain ; Decompression ; Diagnosis, Differential ; Emergencies ; Fever ; Headache ; Humans ; Hypopituitarism ; Magnetic Resonance Imaging ; Meningitis ; Meningitis, Aseptic ; Nausea ; Ophthalmoplegia ; Pituitary Apoplexy

t (8;21)(q22;q22) is the most frequently detected cytogenetic abnormality in patients with acute myeloid leukemia (AML) and accounts for 8-21% of de novo AML. The translocation involves two genes, RUNX1 (formerly AML1) on 21q22 and RUNX1T1 (ETO) on 8q22. RUNX1/RUNX1T1 translocation confers a favorable prognosis, but a subset of patients has a precipitous course with a high incidence of relapse. This patient subset is associated with the presence of a c-kit mutation. c-kit is a proto-oncogene, which encodes a type III transmembrane tyrosine kinase, which elicits a variety of cellular responses essential for the development of bone marrow stem cells. The expression of the c-kit mutation in AML is < 2%, whereas AML with RUNX1/RUNX1T1 shows higher rates of c-kit mutation and is associated with extramedullary leukemia and poor clinical outcome. We report cases of myeloid sarcoma in patients with RUNX1/RUNX1T1-positive AML and a c-kit mutation.
Bone Marrow ; Chromosome Aberrations ; Core Binding Factor Alpha 2 Subunit ; Humans ; Incidence ; Leukemia ; Leukemia, Myeloid, Acute ; Oncogene Proteins, Fusion ; Prognosis ; Protein-Tyrosine Kinases ; Proto-Oncogenes ; Recurrence ; Sarcoma, Myeloid ; Stem Cells

BACKGROUND/AIMS: Femoral fracture occurs most often in elderly patients and is highly associated with medical problems such as acute kidney injury (AKI); however no reports of AKI in femoral fracture patients have been published. This study was performed to identify risk factors and the clinical course of AKI in patients with femoral fracture. METHODS: We retrospectively evaluated the medical records of 110 patients with femoral fracture between November 2006 and December 2011 at Uijeongbu St. Mary's Hospital. We investigated the incidence and clinical course of AKI in femoral fracture patients and compared the clinical findings between AKI and normal kidney function (NKF) groups. RESULTS: Of the 110 femoral fracture patients, AKI was observed in 19 (17.3%). The peak serum creatinine level in patients with AKI was 2.59 +/- 1.57 mg/dL. Two of 19 patients with AKI died and two progressed to chronic kidney disease. When compared to the NKF group, the AKI group had a higher incidence of elevated lactate dehydrogenase (LDH) (63.2% vs. 34.1%, p = 0.020), erythrocyte sedimentation rate (ESR) (31.6% vs. 6.6%, p = 0.008), and C-reactive protein (57.9% vs. 46.2%, p = 0.042). The AKI group also had a longer hospitalization duration, and more patients were prescribed an angiotensin-converting-enzyme (ACE) inhibitor than in the NKF group. Multivariate analysis demonstrated elevated LDH, ESR and ACE inhibitor prescriptions as independent risk factors for AKI in patients with a femoral fracture. CONCLUSIONS: The incidence of AKI in patients with a femoral fracture was 17.3%, and AKI was associated with a longer clinical course. We recommend monitoring of laboratory findings and medications and early management to reduce the morbidity of patients with AKI.
Acute Kidney Injury ; Aged ; Blood Sedimentation ; C-Reactive Protein ; Creatinine ; Femoral Fractures ; Hospitalization ; Humans ; Incidence ; Kidney ; L-Lactate Dehydrogenase ; Medical Records ; Multivariate Analysis ; Prescriptions ; Renal Insufficiency, Chronic ; Retrospective Studies ; Risk Factors