• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.2
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• pp.131-135
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• 2004

Rett syndrome is a neurological disorder seen almost exclusively in females, and found in a variety of racial and ethnic groups worldwide. First described by Dr. Andreas Rett in 1983. The specific features of the Rett syndrome is apraxia. Most of the Rett syndrome has been diagnosed erroneously to autism, cerebral palsy, and unknown developmental disorders. The etiology of the Rett syndrome is not figured out exactly but it seem to have relation with genetic factors. In this case the patient with Rett syndrome had a chief complaint of the injury of palate due to deep bite. We report this case for the satisfactory result using the bite plane to decrease the injury of the palate due to deep bite.

• Radiation Oncology Journal
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• v.30 no.2
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• pp.53-61
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• 2012

Purpose: To determine feasibility of RapidArc in sequential or simultaneous integrated tumor boost in whole brain radiation therapy (WBRT) for poor prognostic patients with four or more brain metastases. Materials and Methods: Nine patients with multiple (${\geq}4$) brain metastases were analyzed. Three patients were classified as class II in recursive partitioning analysis and 6 were class III. The class III patients presented with hemiparesis, cognitive deficit, or apraxia. The ratio of tumor to whole brain volume was 0.8-7.9%. Six patients received 2-dimensional bilateral WBRT, (30 Gy/10-12 fractions), followed by sequential RapidArc tumor boost (15-30 Gy/4-10 fractions). Three patients received RapidArc WBRT with simultaneous integrated boost to tumors (48-50 Gy) in 10-20 fractions. Results: The median biologically effective dose to metastatic tumors was 68.1 $Gy_{10}$ and 67.2 $Gy_{10}$ and the median brain volume irradiated more than 100 $Gy_3$ were 1.9% (24 $cm^3$) and 0.8% (13 $cm^3$) for each group. With less than 3 minutes of treatment time, RapidArc was easily applied to the patients with poor performance status. The follow-up period was 0.3-16.5 months. Tumor responses among the 6 patients who underwent follow-up magnetic resonance imaging were partial and stable in 3 and 3, respectively. Overall survival at 6 and 12 months were 66.7% and 41.7%, respectively. The local progression-free survival at 6 and 12 months were 100% and 62.5%, respectively. Conclusion: RapidArc as a component in whole brain radiation therapy for poor prognostic, multiple brain metastases is an effective and safe modality with easy application.

• Journal of Korean Neurosurgical Society
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• v.29 no.2
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• pp.222-230
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• 2000

Purpose : Resection of the epileptogenic zone in the parietal and occipital lobes may be relevant although only few studies have been reported. Methods : Eight patients with parietal epilepsy and nine patients with occipital epilepsy were included for this study. Preoperatively, all had video-EEG monitoring with extracranial electrodes, MRI, 3D-surface rendering of MRI using Allegro(ISG Technologies Inc., Toronto, Canada), and PET scans. Sixteen patients underwent invasive recording with subdural grid. Eight had parietal resection including the sensory cortex in two. Seven had partial occipital resection. Two underwent total unilateral occipital lobectomy. The extent of the resection was made based mainly on the data of invasive EEG recordings, MRI, and 3D-surface rendering of MRI, not on the intraoperative electrocorticographic findings as usually done. During resection, electrocortical stimulation was performed on the motor cortex and speech area. Results : Out of eight patients with parietal epilepsy, three had sensory aura, two had gustatory aura, and two had visual aura. Six of nine patients with occipital epilepsy had visual auras. All had complex partial seizures with lateralizing signs in 15 patients. Four had quadrantopsia. One had mild right hemiparesis. Abnormality in MRI was noticed in six out of eight parietal epilepsy and in eight out of nine occipital epilepsy. 3D-surface rendering of MRI visualized volumetric abnormality with geometric spatial relationships adjacent to the normal brain, in all of parietal and occipital epilepsy. Surface EEG recording was not reliable in localizing the epileptogenic zone in any patient. The subdural grid electrodes can be implanted on the core of the structural abnormality in 3D-reconstructed brain. Ictal onset zone was localized accurately by subdural grid EEGs in 16 patients. Motor cortex in nine and sensory speech area in two were identified by electrocortical stimulation. Histopathologic findings revealed cortical dysplasia in 10 patients ; tuberous sclerosis was combined in two, hamartoma and ganglioglioma in one each, and subpial gliosis in six. Eleven patients were seizure free at follow-up of 6 months to 37 months(mean 19.7 months) after surgery. Seizures recurred in two and were unchanged in one. Six produced transient sensory loss and one developed hemiparesis and tactile agnosia. One revealed transient apraxia. Two patients with preoperative quadrantopsia developed homonymous hemianopsia. Conclusion : This study suggests that surgical treatment was relevant in parietal and occipital epilepsies with good surgical outcome, without significant neurologic sequelae. Neuroimaging studies including conventional MRI, 3Dsurface rendering of MRI were necessary in identifying the epileptogenic zone. In particular, 3D-surface rendering of MRI was very helpful in presuming the epileptogenic zone in patients with unidentifiable lesion in the conventional MRI, in planning surgical approach to lesions, and also in making a decision of the extent of the epileptogenic zone in patients with identifiable lesion in conventional MRI. Invasive EEG recording with the subdural grid electrodes helped to confirm a core of the epileptogenic zone which was revealed in 3D-surface rendered brain.

• Journal of Yeungnam Medical Science
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• v.27 no.1
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• pp.27-36
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• 2010

Purpose : The purpose of this study was to find out cognitive function of the patients with subjective memory complaint. Material and Methods : From March 1st 2005 to May 31st 2009, 155 normal individuals without any medical illness who visited Yeungnam University Hospital to undergo medical checkup with neurocognitive test was enrolled, and checked by using Cognitive Assessment & Reference Diagnostic System. Results : 107 of the patients had normal cognitive function, 21 patients (about 15%) were diagnosed with dementia, and 10 patients (about 7%) were diagnosed with considerable psychiatric illness, such as depression, anxiety disorder, adjustment disorder. In amnesia, agnosia, aphasia, attention, calculation, dysexecution, Dementia group and Psychiatric illness group has worse score than Normal individuals group. But, in apraxia, Dementia group has worse score than Psychiatric illness group and Normal individual group. Conclusion : Because the patients with subjective memory complaint can be diagnosed as any psychiatric illness as well as dementia, sensitive screening test and early psychiatric approach is needed.

• Phonetics and Speech Sciences
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• v.13 no.2
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• pp.77-90
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• 2021

This study is to develop a Korean version of nonword intervention by modifying and supplementing a Rapid syllable transition treatment (ReST) and to determine its effect by applying it to children with CAS. Ultimately, the purpose of this study is to investigate whether nonword interventions are effective for nonword production ability and generalization of real words. Single-subject research using the ABA design was performed for a child aged five years and six months with diagnostic features of CAS. The nonwords used in the interventions were made suitable for the individual child. The intervention was provided in one-hour sessions, twice a week for six weeks. In all cases, performance of the treated three-syllable nonwords improved, and untreated three-syllable words, four-syllable words, and nonwords showed a generalization effect. However, the generalization of treatment effects to words was smaller than for nonwords. The nonword intervention was effective in improving the subject's speech motor programming skills. As a result, transition errors due to impaired speech motor programming were greatly reduced, and the ability to produce untreated nonwords was greatly increased. However, there was a limit to the full improvement of strongly habitable word errors, which would be expected if a more intensive and repetitive intervention schedule was provided.

• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1263-1272
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• 2002

Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. Methods : Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. Results : The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. Conclusion : MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.