Benign idiopathic neonatal convulsion is a rare disorder which has no family history of convulsion and develops before and after the 5th day in a healthy full-term neonate. Its characteristics appear focal, or multifocal clonic seizures but rare tonic seizures lasting about several minutes. It reveals non-specific findings in neurologic examination, neuroimaging and EEG(electroencephalography) so that it should be differentiated from those diseases such as eletronic imbalance, inborn errors of metabolism, other neonatal epileptic syndromes. We report two healthy full-term female neonates presented with multifocal clonic seizures before and after the 5th day after birth. They had no family history of convulsion, fetal asphyxia, fetal and maternal problems and the neurologic examination and neuroimagings were normal. The convulsions were controlled by intravenous phenobarbital injection. They had no more convulsions ever since and showed normal development at the follow-up performed one year later. We experienced a rare disorder, benign neonatal convulsion in healthy full-term neonates. We hope this report will help its diagnosis and treatment and prevent unnecessary long- term anticonvulsant medication.
Asphyxia ; Epilepsy, Benign Neonatal ; Female ; Follow-Up Studies ; Humans ; Infant, Newborn ; Metabolism, Inborn Errors ; Neuroimaging ; Neurologic Examination ; Parturition ; Phenobarbital ; Seizures

The Pill Questionnaire (PillQ) has been proposed as a simple way to evaluate cognitive deficits and their impact on the daily lives of those with Parkinson’s disease (PD) by asking patients or caregivers about whether patients can independently manage their pills. We used the PillQ to investigate the association of ability to manage medication with cognition and activities of daily living (ADLs) in patients with PD. Patients were divided into two groups based on PillQ scores. The no-impact group was able to take their antiparkinsonian medication independently, and the impact group exhibited problems describing their treatment or taking their drugs independently. A total of 208 participants (93 men) were included. 111 patients (53.4%) were included in the no-impact group, and 97 (46.6%) were included in the impact group. The impact group showed significantly lower cognitive functioning, difficulties with the performance of ADLs, and severe motor dysfunction. PillQ scores were significantly correlated with Mini-Mental State Examination and the Montreal Cognitive Assessment, and Clinical Dementia Rating scores. Management of medication by PD patients is associated with cognitive function, and the PillQ is an easy and useful test for detecting cognitive impairment and its impact on daily life.

Although most of the known pathogenic mutations in the progranulin gene (PGRN) are null mutations leading to a reduction in the serum PGRN protein levels, missense mutations also have been identifi ed in patients with frontotemporal lobar degeneration and in patients with Alzheimer disease. Among these, p.R564C mutation was identifi ed in a late-onset AD patient with a reduced serum PGRN level. However, recently, we found the p.R564C mutation in a healthy control subject raising doubts whether this is a pathogenic mutation. In this report, we measured the serum PGRN levels in 20 subjects without the p.R564C mutation and in one subject with the p.R564C mutation, to determine whether the p.R564C mutation is associated with reduced serum PGRN levels. We found that the serum PGRN level in the subject with the p.R564C mutation was not reduced compared to the subjects without the p.R564C mutation. Our result reiterates that p.R564C may not be a pathogenic mutation.

Extramammary Paget's disease is a neoplastic disease, which usually manifests as an erythematous plaque on the genital area. Pigmented extramammary Paget's disease is a rare variant. It should be differentiated from malignant melanoma. We report a case of pigmented extramammary Paget's disease in a 62-year-old male who had a brown-to-black or erythematous-colored plaque on the scrotum and inguinal area. Histopathologic findings showed features typical to extramammary Paget's disease, with proliferation of epidermal melanocytes and dermal melanin pigments.
Humans ; Male ; Melanins ; Melanocytes ; Melanoma ; Middle Aged ; Paget Disease, Extramammary* ; Scrotum

Primary malignant lymphoma of lung is a very rare disease, only 0.34% of all malignant lymphomas. In our case, a 76 year old male patient had a solitary mass without lympha-denopathy at chest CT scan. He underwent right middle lobectomy through a posterolateral thoracotomy incision. Pathologic study confirmed a diagnosis of malignant lymphoma and chemotherapy was started by an oncologist.
Aged ; Diagnosis ; Drug Therapy ; Humans ; Lung Neoplasms ; Lung* ; Lymphoma* ; Male ; Rare Diseases ; Thoracotomy ; Tomography, X-Ray Computed

Angiofibroma and shagreen patches are common cutaneous manifestations of tuberous sclerosis complex (TSC) and have significant physical and psychological repercussions for patients. Several treatments have been proposed to improve lesions; however, clear treatment guidelines have not yet been presented. Thus, we introduce a case of angiofibroma and shagreen patch improved by application of pulsed dye laser, ablative fractional CO2 laser, and topical rapamycin, and present clinical implications for the treatment of angiofibroma and shagreen patch in TSC.

Background and Objectives: This study aimed to examine factors of poor outcome by analyzing the outcomes of bilateral subthalamic deep brain stimulation in Parkinson’s disease after 3 years. Methods: We assumed that patients who could not manage independent life in their best stimulationon/medication-on condition after a defi ned period might not have been a good surgical candidate. A poor outcome is defi ned as a failure to maintain functional independence at three years during a stimulation-on/medication-on state. Results: A total of 84 patients underwent bilateral subthalamic deep brain stimulation and all were followed up for 3 years. We excluded one patient who had intracranial hemorrhage. Twenty-one patients of the 83 patients could not keep up independent life even during their best condition for the following reasons: freezing in 15 patients, dementia in 5, depression in 3, musculoskeletal problems in 7, and cancer in one patient. Conclusions: Many patients could not keep up independent life during their best condition as early as three years after deep brain stimulation. Musculoskeletal problems were one major cause of disabilities, as were freezing and dementia. We emphasize that musculoskeletal problems need more attention in the preoperative screening of deep brain stimulation candidates and during the follow up.

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

Purpose: Sleep-disordered breathing is one of the complicating characteristics in patients with Prader-Willi syndrome (PWS). No detailed description and risk factors are suggested on breathing problems during sleep in Korean children with PWS. Methods: We reviewed clinical and sleep-study data in patients with PWS who underwent polysomnography before they took the growth hormone therapy. Results: Of the 27 patients with PWS, 25 (92.6%) had sleep-disordered breathing, of whom 14 showed moderate to severe sleep apnea. Obstructive dominance was prevalent (64%), followed by central dominance (24%). The apnea-hypopnea index (AHI) increased with increasing weight-for-height z-score (WHZ) (r = 0.50, P = 0.009), but did not differ by age. Apnea duration of over 12 months was longer in the patient group than in the infant group (15.1 ± 4.3 seconds vs. 9.4 ± 1.7 seconds, P = 0.001) and in the obese than nonobese groups (16.8 ± 4.3 seconds vs. 10.0 ± 2.0 seconds, P = 0.003). Desaturation below 70% was more common in the obese than nonobese subjects (3/9 vs. 0/18, P = 0.029). Age was not different between the central and obstructive apnea groups, but patients with central apnea tended to be younger than patients with obstructive apnea (median [range]: 8.0 months [6.0–12.0 months] vs.16.5 months [8.5–79.5 months], P = 0.092). In addition, patients with obstructive apnea showed higher AHI (12.8 [5.9–19.2] vs. 3.9 [3.4–4.5], P = 0.045). Conclusion Sleep-disordered breathing is common in PWS children with different intensity and patterns according to age and BMI. Close monitoring of breathing problems during sleep is required in PWS patients.

STATEMENT OF PROBLEM: The use of zirconia prostheses fabricated with CAD/CAM system is on an increasing trend in dentistry. However, evaluation of the fit related to internal relief and marginal reproducibility of zirconia has not been reported. PURPOSE: This study was to evaluate the fit related to internal relief and marginal reproducibility of zirconia core fabricated with CAD/CAM system. Materials and methods: The evaluation was based on 30 zirconia cores and 5 IPS-Empress2 cores. Zirconia cores were fabricated in different conditions of internal relief(0, 10, 20, 30, 40 and 50 micrometer), and IPS-Empress2 cores were fabricated in accordance with the manufacturer's instructions. Before cementation, the marginal discrepancies of cores were measured on metal die. And then, each core was cemented to stone die, embedded in an acrylic resin and sectioned in two planes(mesiodistally and labiopalatally). The internal gaps were measured at the margin and axial surface. Measurements for the marginal discrepancies, the internal marginal gaps and the internal axial gaps were performed under a measuring microscope(Compact measuring microscope STM5; Olympus, Japan) at a magnification of *100. In addition, the marginal configurations of metal die, zirconia core and IPS-Empress2 core were examined with SEM(S-2700, Hitachi, Japan). RESULTS: Within the limits of this study the results were as follows. 1. Compared with IPS-Empress2 cores, the marginal discrepancies of zirconia cores had no significant differences, the internal marginal gaps were statistically smaller and the internal axial gaps were statistically larger in each condition of internal relief. 2. The marginal discrepancies and the internal marginal gaps of zirconia cores had no significant differences related to the conditions of internal relief(P>0.05). 3. The internal axial gaps of zirconia cores with 0.20micrometer for internal relief were significantly larger than that with 50micrometer(P<0.0001). 4. SEM micrographs showed favorable marginal reproducibility of zirconia core and smooth texture on the milling surface. CONCLUSION: The marginal discrepancy and the internal gaps of zirconia core were clinically acceptable and the milling surface was showed smooth texture. For fabrication of the durable esthetic restoration, further investigations on complex design of core, milling accuracy, compatability of enamel porcelain and porcelain firing seems to be needed.
Cementation ; Dental Enamel ; Dental Porcelain ; Dentistry ; Fires ; Prostheses and Implants