Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability

PURPOSE: The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplained developmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We also aimed to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). MATERIALS AND METHODS: We collected clinical and CMA data from patients at Konyang University Hospital between September 2013 and October 2014. We included patients who had taken the CMA test to evaluate the etiology of unexplained DD/ID. RESULTS: All of the 50 patients identified had DD/ID. Thirty-nine patients had dysmorphism, 19 patients suffered from epilepsy, and 12 patients had congenital anomalies. Twenty-nine of the 50 patients (58%) showed abnormal results. Eighteen (36%) were considered to have pathogenic CNVs. Dysmorphism (p=0.028) was significantly higher in patients with pathogenic CNVs than in those with normal CMA. Two or more clinical features were presented by 61.9% (13/21) of the patients with normal CMA and by 83.3% (15/18) of the patients with pathogenic CMA. CONCLUSION: Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequently found if patients have two or more clinical features in addition to DD/ID.

Posterior Deltoid-to-Triceps Tendon Transfer for Elbow Extension in a Tetraplegia Patient: A Case Report

In tetraplegia patients, activities of daily living are highly dependent on the remaining upper limb functions. In other countries, upper limb reconstruction surgery to improve function has been applied to diverse cases, but few cases have been reported in Korea. The current authors experienced a case of posterior deltoid-to-triceps tendon transfer and rehabilitation in a complete spinal cord injury with a C6 neurologic level, and we introduce the case-a 36-year-old man-with a literature review. The patient's muscle strength in C5 C6 muscles were normal, but C7 muscles were trace, and the Spinal Cord Independence Measure III (SCIM III) score was 24. The tendon of the posterior deltoid was transferred to the triceps brachii muscle, and then the patient received comprehensive rehabilitative treatment. His C7 muscle strength in the right upper extremity was enhanced from trace to fair, and his SCIM III score improved to 29.

A Letter of Condolences

No abstract available.

Comprehension and Compliance of Medication of Spinal Cord Injured Patients Who Visited to Outpatient Clinic

OBJECTIVE: To investigate the drug compliance and factors that have an influence on drug compliance of spinal cord injured patients. METHOD: From January to June in 2009, spinal cord injured patients who visited our hospital for regular prescription were asked to fill out questionnaires about demographic data, comprehension and compliance of medication. RESULTS: Forty-eight patients completed questionnaires. Thirty-three were male and the rest were female. Twenty were tetraplegic and 26 paraplegic. Twenty-two were completely injured and 26 had incomplete injuries. The level of awareness of names, shapes and effects of medication were 70.8%, 87.5% and 77.1%, respectively. The compliant group that had more than 80% of drug compliance was 38 patients. The non-compliant group that had less than 80% compliance had 10 patients. In respect of compliance of medication, the patients tended to miss the time of administration more than the number of administration. Twenty patients didn't tell their doctors that they hadn't been taking their medication properly. There were no statistically significant differences between drug compliance and the following: patient's age, sex, spinal cord injury type, education level, time elapsed since the injury, number of medication per day, and comprehension of name, shapes and effects of medication. CONCLUSION: Drug compliance of spinal cord injured patients was high. Education on necessity, side effects and usage of medication may be needed to maintain high drug compliance. To investigate the drug compliance and factors that have an influence on drug compliance of spinal cord injured patients.

Obturator Prosthesis for Velopharyngeal Insufficiency after Treatment of Soft Palate Cancer: A Case Report

Velopharyngeal insufficiency after surgical resection of soft palate cancer can be troublesome. This report concerns a male suffered from severe dysphagia following combined treatment for soft palate cancer. Sequential videofluoroscopic swallowing studies (VFSS) were used to assess his swallowing function and plan the interventional strategies. Initial VFSS showed huge nasal regurgitation, increased oral transit time, residues in oral cavity, delayed swallowing reflex, pharyngeal residue, impaired laryngeal elevation, and aspiration in semisolid and liquid trials. Obturator prosthesis was fabricated to minimize velopahryngeal insufficiency. After application of obturator prosthesis, swallowing dysfunction in oral and pharyngeal stages was markedly improved. Nasal regurgitation was not shown. Oral residue, oral transit time in oral stage also improved. Residue on vallaculae and pyriform sinuses decreased in pharyngeal stage. Aspiration also decreased. We reported successful obturator prosthesis application with sequential changes of clinical and VFSS findings in our case.

Cerebral Air Embolism during Open Heart Surgery with Cardiopulmonary Bypass: A Case Report

Cerebral air embolism is an unusual event that is mainly an iatrogenic cause, such as open heart surgery. We present a case of cerebral air embolism in a patient undergoing ASD patch repair with cardiopulmonary bypass. He had a status epilepticus, loss of consciousness and marked left limb weakness immediately after the operation. Diffusion-weighted MRI with angiography showed acute infarction in right entire hemisphere with patent internal carotid and intracranial arteries, and glucose PET brain scan showed severe decreased uptakes in right hemisphere. He recovered markedly with mild motor impairment of left upper and lower limbs in the 6 months after onset.

Increase of Independence in a Hemipelvectomy Patient with a Custom-Molded Supportive Seating and a Cosmetic Prosthesis : A case report

We report a case of hemipelvectomy, which was successfully treated with custom-molded supportive seating and a cosmetic prosthesis. A 32-year-old woman with a history of right traumatic hemipelvectomy, 24 years ago, visited our outpatient clinic for proper prosthetic rehabilitation. After injury, she was not able to use functional prostheses because of persistent skin problems of the hemipelvectomy site. She was able to perform all activities of daily living independently, but had to rely on crutch walking and was not able to sit on an even surface for longer periods of time. With the molded supportive seating the patient was able to perform outdoor activities for up to 10 hours. This case shows an approach in amputee rehabilitation, in which the ultimate goal of prosthetic fitting is not independent walking, but the improvement of independence and hence the improvement of quality of life.

Improvement of Chronic Post-Stroke Hemiparetic Upper Limb Function after 2 Week Trascranial Direct Current Stimulation

OBJECTIVE: To investigate whether transcranial direct current stimulation (tDCS) could improve the motor function of hemiparetic upper limb in chronic stroke patients through randomized double-blinded, sham-controlled study. METHOD: Twenty chronic post-stroke hemiparetic patients participated in this study. They were randomly assigned into either tDCS or sham group. Anodal tDCS was delivered on lesional primary motor cortex for 20 minutes in tDCS group and 30 seconds in sham group. Just after stimulation, both groups performed the shaping exercise for 30 minutes. Total 10 stimulation sessions (5 session/week for 2 weeks) were administered. Fugl-Meyer motor assessment, box and block test, grasp strength and FIM were assessed before stimulation, after 1 week of stimulation, after 2 weeks of stimulation, and 2 weeks after stimulation. RESULTS: The upper extremity score of Fugl-Meyer motor assessment and box and block test improved significantly in tDCS group compared to sham group (p<0.05). Their improvement lasted significantly for 2 week after stimulation. However, FIM, lower extremity score of Fugl-Meyer motor assessment and grasp power did not improved significantly in tDCS group compared to sham group. CONCLUSION: tDCS can improve the motor function of hemiparetic upper limb in chronic post-stroke patients, and the effects lasted after stimulation. tDCS may be used as an additional tool for stroke rehabilitation.

Assessment of Post-Stroke Cognitive Dysfunction Using 3-Dimensional Virtual Reality Program

OBJECTIVE: To test the feasibility of newly developed 3- dimensional virtual reality (VR) program for assessing the post-stroke cognitive dysfunction. METHOD: Thirty five post-stroke patients and twenty normal healthy subjects were recruited in this study, and post-stroke patients were classified into three groups according to the severity of cognitive dysfunction. We developed three dimensional virtual reality program to assess the cognitive function with virtual subway environment from taking a subway to arriving at one's destination. The total score, number of success and cue were obtained during completing virtual tasks. We investigated the test-retest reliability, and the parameters of the 3-dimensional VR program were compared with Korean Mini-mental status examination. RESULTS: All parameters of the VR program were significantly correlated with MMSE score (p<0.01), and showed the significant difference between patient subgroups and control group (p<0.05). The test-retest reliability of the VR program was significantly high (p<0.01). CONCLUSION: Three dimensional virtual reality program may be helpful to assess the cognitive function in patients with stroke.

Effects of Transplantation of Human Embryonic Stem Cellson Functional Recovery in Spinal Cord Injured Rats

OBJECTIVE: To investigate the functional recovery following the transplantation of human embryonic stem (hES) cells into an injured rat spinal cord. METHOD: Sprague-Dawley rats were subjected to the spinal cord injury (SCI) using the New York University impactor. The rats were randomly allocated into three groups of 12 rats each, one media-treated and two hES cell-transplanted groups (5x10(3)/5microliter, 2x10(4)/5microliter). The hES cells were transplanted 1 week after a SCI. RESULTS: The hES cells transplanted into the rats were found to promote the hind limb performance 8 weeks after transplantation. In the electrophysiological study, the transplanted rats showed significantly shortened latencies and increased amplitudes of motor and somatosensory evoked potentials, compared to the media-treated rats. In the spinal cord of the hES cell-treated group, the pathological findings including the glial scar formation and degenerative changes were attenuated and the human Tau protein-positive cells were identified in the vicinity of the necrotic cavity and in the white matter. CONCLUSION: These results suggest that the transplantation of hES cells might play a role in promoting the functional recovery after a SCI.

Effect of Prefrontal Repetitive Transcranial Magnetic Stimulationon the Enhancement of Working Memory

OBJECTIVE: To investigate the effect of repetitive transcranial magnetic stimulation (rTMS) applied over the left prefrontal cortex on the enhancement of verbal working memory in healthy persons. METHOD: High frequency (10 Hz) rTMS was applied over the left prefrontal cortex with the intensity of 100% resting motor threshold (RMT). A 3-back verbal working memory task was administered before, during (after applying 500 and 1,000 pulses, respectively), and 30 minutes after real or sham rTMS. RESULTS: Real rTMS, compared with sham stimulation, significantly improved working memory performance. Accuracy of response increased significantly after applying 1,000 pulses of real rTMS (p<0.05). This effect maintained for 30 minutes after completion of stimulation (p<0.05). The error rate and reaction time did not change with rTMS. There was no noticeable side effect during or after rTMS. CONCLUSION: 1,000 pulses of 10 Hz rTMS administered to the left prefrontal cortex with the intensity of 100% RMT have positive impact on verbal working memory in healthy persons. Further study is necessary to address this effect of rTMS in patients with cognitive dysfunction.

Difference of Organism and Their Antibiotics Sensitivity from Urine Culture in Symptomatic Urinary Tract Infection of Spinal Cord Injury Patients

OBJECTIVE: To assess the necessity of extra rounds of urine culture when symptom of urinary tract infection (UTI) is developed from asymptomatic bacteriuria in spinal cord injury patients. METHOD: A total of 226 patients who took a urine culture at least twice during their stay and did not show symptoms of UTI at the admission were chosen. We then divided them into two groups: the one with patients who showed symptoms of UTI, and the other with ones who did not. Follow-up urine culture was performed when patients had symptoms of UTI or after one month from admission. RESULTS: 1) Of the 226 patients, 60 patients showed symptoms of UTI, while 166 patients did not. 2) From the UTI group, there were 38 (63.3%) patients whose organism from their urine culture changed. From the non-UTI group, 79 (47.6%) patients saw their organism from their urine culture changed. 3) From the UTI group, there were 31 (56.4%) patients whose organism was more resistant to the antibiotics. From the non-UTI group, there were 80 (68.4%) patients whose organism was more resistant to the antibiotics. CONCLUSION: If UTI occurs in spinal cord injury patients, new organism might be detected in urine culture. Therefore, we should choose the proper antibiotics based on results of follow-up urine culture performed when the patients had symptoms of UTI.

Relationship of Language, Intelligent and Social Quotients in Children with Speech and Language Disorder

OBJECTIVE: To investigate the relationship of language, intelligent and social quotients in children with speech and language disorder and to evaluate the clinical usefulness of language quotient for predicting the extents of cognitive and social functions. METHOD: Total 139 children who visited the department of rehabilitation medicine for the evaluation of suspected speech-language delay. All children were evaluated for receptive and expressive language quotients, articulation accuracy, verbal, performance and full-scale intelligent quotients and social maturation assessment. RESULTS: Approximately 70% of the children who had chief complaints of speech or language disorder were diagnosed as 'receptive and expressive language developmental delay'. Intelligent and social quotients of the children with receptive and expressive language developmental delay were significantly lower than those of the other groups (p<0.05). Both receptive and expressive language quotients, but not dysarticulation, were significantly correlated with intelligent and social quotients (p<0.05). Multiple regression analysis demonstrated that the language quotients could predict intelligent and social quotients as simple equations (p<0.01). CONCLUSION: Primary result of receptive and expressive language quotients from screening test of language evaluation might be able to predict cognitive function and social maturity, which also showed high-degree positive correlation with intelligent and social quotients. This result could provide a useful guideline for further developmental studies in children with speech and language disorder who received primary speech evaluation.

Induction of Striatal Neurogenesis by Voluntary Exercise and Environmental Enrichment

OBJECTIVE: To investigate that neurogenesis in the subventricular zone (SVZ), which is already known as neurogenic area where neural stem/progenitor cells persist, and the striatum, which is non-neurogenic area, might be induced by voluntary exercise (VEx) or environmental enrichment (EE), and compare the extent of the neurogenesis with untreated controls. METHOD: Total 12 C57BL/6 mice, 2~3 months old, were recruited as follows; voluntary wheel runner, EE and control. For 2 weeks, VEx group was housed in rat cage (48x26 cm) with 2 running wheels with 3~4 animals/cage, and EE group was housed in the living condition of huge cage (86x76 cm), social interaction (13~14 mice/cage) and objects such as toys, tunnels and running wheel, whereas control group was placed in the standard cage (30x18 cm). RESULTS: VEx and EE tended to increase the densities of mitotic marker BrdU+ cells in SVZ and striatum. They also exhibited more BrdU+ cells (/mm3) into the striatum, even though they did not show statistical significance. Moreover, EE group showed significant increment of the newly generated neurons coexpressed with BrdU+ and betaIII-tubulin+ (/mm3) in SVZ and striatum as compared to those of controls. CONCLUSION: Voluntary physical exercise and EE induced cell proliferation and neurogenesis in both SVZ and striatum. Characteristically, EE could significantly induce neurogenesis in striatum, non-neurogenic area as well as SVZ, typical neurogenic area. Therefore, this strategy might be used to activate neural regeneration in various central nervous system diseases.

The Comparison of Post-stroke Related Depression Scales

OBJECTIVE: To compare the characteristics between geriatric depression scale (GDS), Hamilton depression rating scale (HDRS) and post-stroke depression scale (PSDS) in the aspect of diagnosis and severity assessment for post-stroke depression. METHOD: 45 post-stroke patients were included for this study. Subjects were classified through DSM-IV criteria into three different groups; depression-free, minor depression and major depression. GDS, HDRS, PSDS were also assessed in all subjects simultaneously. Three depression assessment scales were compared between groups based on DSM-IV criteria, and the sensitivity and specificity using cut-off value were analyzed. RESULTS: All scales showed the significant differences between depression group and depression-free group. GDS showed higher sensitivity and specificity than HDRS and PSDS and GDS showed the significant difference between minor depression and no depression group, but other scales did not. HDRS and PSDS in major depression group showed the significant differences compared with minor depression group (p<0.05), but GDS did not. CONCLUSION: GDS may be more useful to identify the presence of depression compared to GDRS and PSDS. However, to measure the severity of depression, HDRS and PSDS may be more useful than GDS.

Is Electrical Stimulation Beneficial for Improving the Paralytic Effect of Botulinum Toxin Type A in Children with Spastic Diplegic Cerebral Palsy?

PURPOSE: The purpose of the present study was to investigate whether electrical stimulation (ES) improves the paralytic effect of botulinum toxin type A (BTX-A) and evaluate the differences between low frequency (LF) and high frequency (HF) ES in children with spastic diplegic cerebral palsy (CP). MATERIALS and METHODS: Twenty-three children with spastic diplegia CP who had BTX-A injections into both gastrocnemius muscles were assessed. Following the toxin injection, electrical stimulation was given to 1 side of the injected muscles and a sham-stimulation to the other side for 30 min a day for 7 consecutive days [HFES (25Hz) to 11 children, LFES (4Hz) to 12 children]. The compound motor action potentials (CMAP) from the gastrocnemius muscle were assessed before injection and at 5 time points (days 3, 7, 14, 21, and 30) after injection. The clinical assessments of spasticity were performed before and 30 days after injection. RESULTS: The CMAP area became significantly lower in both LFES and HFES sides from 3 days after injection compared to baseline values. In other words, the CMAP area of the sham-stimulated side showed a significant decrease at 7 or 14 days after injection. However, there were no significant differences in clinical assessment of spasticity between the stimulated and sham-stimulated sides. CONCLUSION: Short-term ES in both LF and HF to the spastic muscles injected with BTX-A might induce earlier denervating action of BTX-A. However, it does not necessarily lead to clinical and electrophysiological benefits in terms of reduction of spasticity.

Behavioral Testing for Therapeutic Outcome Measurements in an Animal Model of Huntington's Disease

OBJECTIVE: To investigate which outcome measurements are useful for detecting functional changes after therapeutic approach to delayed motor impairment in an animal model of Huntington's disease (HD). METHOD: R6/2 transgenic mice received intraventricular injections of adenoviral BDNF/noggin (AdB/N), AdBDNF, AdNull (n=15 each) at 4 weeks of age. Untreated R6/2s and wild-type mice were also recruited as controls. Motor performance was measured using rotarod analysis and locomotor activity test at regular intervals until preterminal age of 13 weeks. RESULTS: On constant speed rotarod testing, AdB/N-treated R6/2s exhibited a delayed disease progression after post- operative 6 weeks. AdB/N also ameliorated general locomotor activity deficits. One min-rotarod analysis showed a delayed motor impairment in AdBDNF group at preterminal age compared with AdNull and untreated controls, which was not shown in 3 min and 5 min-rotarod. Accelerating rotarod paradigm was not superior to constant speed. Partial therapeutic effects on locomotor activities were detected in total 60 min-monitoring, but not in 30 min- or 10 min- monitoring. CONCLUSION: Appropriate behavioral testing and outcome measurements should be selected to detect the treatment effect to slow functional deterioration in HD.

Improvement of Sperm Quality by Pseudoephedrine in Spinal Cord Injured Males

OBJECTIVE: To investigate the changes of sperm quality by taking adrenergic agonist in spinal cord injured (SCI) males treated by repeated electro-ejaculation. METHOD: Twenty-six SCI males were induced three times to ejaculate with rectal probe electrical stimulation, and then semen analysis for their antegrade and retrograde ejaculates was performed, at weekly interval, while they either took pseudoephedrine (Sudafed(R)) for 2 weeks or no medication as a control. RESULTS: Before pseudoephedrine medication, there was no significant difference in sperm quality between two groups. However, after 2 weeks' medication, SCI males taking pse-udoephedrine showed increased semen concentration, motile sperm count and sperm motility of the antegrade ejaculates compared to control group, although there was no difference in any parameter of the retrograde ejaculates. Moreover, sperm motility of the antegrade ejaculates significantly improved after 2 weeks' medication compared with those at the baseline. CONCLUSION: Pseudoephedrine, a sympathomimetic adrenergic agonist, may potentiate the improvement of sperm quality in SCI males undergoing repeated electro-ejaculation for short periods.

The Effect of Levodopa on Akinetic Mutism in Bilateral Anterior Cerebral Artery Infarction: A case report

Akinetic mutism is a clinical syndrome in which the patient is unable to speak (mutism) or move (akinesia). Various brain lesions can induce akinetic mutism. We attended a 71-year-old woman who presented with akinetic mutism caused by bilateral anterior cerebral artery infarction. The patient improved after the administration of levodopa com-bined with carbidopa, in response to visual and verbal stimuli. Increased verbal output and spontaneous motor activities were also noted. Levodopa may be helpful to the treatment of akinetic mutism.

Nonfluent Crossed Aphasia after Right Middle Cerebral Artery Infarction: A case report

Crossed aphasia refers to language disturbance induced by unilateral right hemisphere (non-language dominant) injury in right-handed people who had no previous history of brain damage. Crossed aphasia occurs in less than 2 percent who developed a aphasia. We report a case of a 49-year-old right handed man with language disturbance after right middle cerebral infarction. He showed nonfluent crossed aphasia with Gerstman syndrome such as right-left disorientation, finger agnosia, acalculia and agraphia, but not with apraxia and neglect. At 7 weeks after onset, language function indicated improvement in spontaneous speech and at 19 weeks after onset, improvement in spontaneous speech, comprehension, repetition, naming and reading.