• Clinical and Experimental Pediatrics
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• 제54권2호
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• pp.55-63
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• 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

• Clinical and Experimental Pediatrics
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• 제58권8호
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• pp.309-312
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• 2015

Permanent neonatal diabetes mellitus refers to diabetes that occurs before the age of 6 months and persists through life. It is a rare disorder affecting one in 0.2-0.5 million live births. Mutations in the gene KCNJ11, encoding the subunit Kir6.2, and ABCC8, encoding SUR1 of the ATP-sensitive potassium ($K_{ATP}$) channel, are the most common causes of permanent neonatal diabetes mellitus. Sulfonylureas close the $K_{ATP}$ channel and increase insulin secretion. KCNJ11 and ABCC8 mutations have important therapeutic implications because sulfonylurea therapy can be effective in treating patients with mutations in the potassium channel subunits. The mutation type, the presence of neurological features, and the duration of diabetes are known to be the major factors affecting the treatment outcome after switching to sulfonylurea therapy. More than 30 mutations in the KCNJ11 gene have been identified. Here, we present our experience with a patient carrying a novel p.H186D heterozygous mutation in the KCNJ11 gene who was successfully treated with oral sulfonylurea.

• Journal of Korean Neurosurgical Society
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• 제53권1호
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• pp.49-51
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• 2013

A case of traumatic spondyloptosis of the cervical spine at the C6-C7 level is reported. The patient was treated succesfully with a anterior-posterior combined approach and decompression. The patient had good neurological outcome after surgery. A-51-year-old female patient was transported to our hospital's emergency department after a vehicle accident. The patient was quadriparetic (Asia D, MRC power 4/5) with severe neck pain. Plain radiographs, computerize tomography and spinal magnetic resonance imaging (MRI) showed C6-7 spondyloptosis and C5, C6 posterior element fractures. Gardner-Wells skeleton traction was applied. Spinal alignment was reachived by traction and dislocation was decreased to a grade 1 spondylolisthesis. Then the patient was firstly operated by anterior approach. Anterior stabilization and fusion was firstly achieved. Seven days after first operation the patient was operated by a posterior approach. The posterior stabilization and fusion was achieved. Postoperative lateral X-rays and three-dimensional computed tomography showed the physiological realignment and the correct screw placements. The patient's quadriparesis was improved significantly. Subaxial cervical spondyloptosis is a relatively rare clinical entity. In this report we present a summary of the clinical presentation, the surgical technique and outcome of this rarely seen spinal disorder.

• Journal of Korean Neurosurgical Society
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• 제47권3호
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• pp.228-231
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• 2010

Posttraumatic syringomyelia may result from a variety of inherent conditions and traumatic events, or from some combination of these. Many hypotheses have arisen to explain this complex disorder, but no consensus has emerged. A 28-year-old man presented with progressive lower extremity weakness, spasticity, and decreased sensation below the T4 dermatome five years after an initial trauma. Magnetic resonance imaging (MRI) revealed a large, multi-septate syrinx cavity extending from C5 to L1, with a retropulsed bony fragment of L2. We performed an L2 corpectomy, L1-L3 interbody fusion using a mesh cage and screw fixation, and a wide decompression and release of the ventral portion of the spinal cord with an operating microscope. The patient showed complete resolution of his neurological symptoms, including the bilateral leg weakness and dysesthesia. Postoperative MRI confirmed the collapse of the syrinx and restoration of subarachnoid cerebrospinal fluid (CSF) flow. These findings indicate a good correlation between syrinx collapse and symptomatic improvement. This case showed that syringomyelia may develop through obstruction of the subarachnoid CSF space by a bony fracture and kyphotic deformity. Ventral decompression of the obstructed subarachnoid space, with restoration of spinal alignment, effectively treated the spinal canal encroachment and post-traumatic syringomyelia.

• 대한치과마취과학회지
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• 제10권1호
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• pp.45-49
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• 2010

Adrenoleukodystrophy (ALD) is a rare X-linked genetic disorder associated with various central nervous system problems and adrenal insufficiency. It is common in childhood and symptoms include loss of previously acquired neurological abilities, seizures, ataxia, Addison's disease as well as degeneration of visual and auditory function. These children frequently require anesthesia during imagining procedure such as MRI or during some surgical procedures like gastrostomy. There is special need for careful management because of numerous anesthetic challenges like difficulty in cooperation, seizure disorders, life-threatening airway obstruction, copious oral secretion and possibility of aspiration. In addition, adrenal involvement and hypofunction must be considered for safe anesthesia management. We report a successful anesthetic management in a patient with ALD for dental procedures.

• Journal of Yeungnam Medical Science
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• 제21권1호
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• pp.96-100
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• 2004

Behcet's disease is a chronic, relapsing multisystem disorder, that may develop into variable neurological manifestations. They include vascular and parenchymal involvement. Vascular involvement is dominated by cerebral venous sinus thrombosis marked by benign intracranial hypertension. Cerebral venous sinus thrombosis can present with all the classical criteria for idiopathic intracranial hypertension, including normal brain CT findings with normal CSF content. But brain MRI is a useful diagnostic method in this situation to confirm the presence of cerebral venous sinus thrombosis. We experienced a case of raised intracranial pressure in a 21-year-old man, caused by cerebral venous sinus thrombosis. We disclosed his symptoms and signs thus fulfilling the diagnostic criteria for Behcet's disease.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.125-128
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• 2016

Harlequin syndrome, which is a rare disorder caused by dysfunction of the autonomic system, manifests as asymmetric facial flushing and sweating in response to heat, exercise, or emotional factors. The syndrome may be primary (idiopathic) with a benign course, or can occur secondary to structural abnormalities or iatrogenic factors. The precise mechanism underlying idiopathic harlequin syndrome remains unclear. Here, we describe a case of a 6-year-old boy who reported left hemifacial flushing and sweating after exercise. He had an unremarkable birth history and no significant medical history. Complete ophthalmological and neurological examinations were performed, and no other abnormalities were identified. Magnetic resonance imaging was performed to exclude lesions of the cerebrum and cervicothoracic spinal cord, and no abnormalities were noted. His final diagnosis was classic idiopathic harlequin syndrome. Herein, we report the first pediatric case of idiopathic harlequin syndrome in Korea.

• 동의생리병리학회지
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• 제17권2호
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• pp.457-460
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• 2003

It has been suggested that oxidative stress of reactive oxygen species(ROS) may play an important role in the pathogenesis of neurological disorder. The aim of this study was to elucidate the oxidative stress of glucose oxidase(GO) in the cultured mouse spinal motor neurons and the preventing effect of Benincasae Semen(BS) on ROS-induced neurotoxicity. Cytotoxic effect of GO and protective effect of BS were performed by MTT assay. 30mU/ml GO decreased cell viability in dose-and time-dependent mannner, and BS diminished GO-induced neurotoxicity in these cultures. From above the results, ROS such as GO has toxic effect, and herb extract of BS is very effective against GO-induced neurotoxicity in cultured spinal motor neurons of neonatal mouse.

• Molecules and Cells
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• 제39권10호
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• pp.750-755
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• 2016

Although innate color preference of motile organisms may provide clues to behavioral biases, it has remained a longstanding question. In this study, we investigated innate color preference of zebrafish larvae. A cross maze with different color sleeves around each arm was used for the color preference test (R; red, G; green, B; blue, Y; yellow). The findings showed that 5 dpf zebrafish larvae preferred blue over other colors (B > R > G > Y). To study innate color recognition further, tyrosinase mutants were generated using CRISPR/Cas9 system. As a model for oculocutaneous albinism (OCA) and color vision impairment, tyrosinase mutants demonstrated diminished color sensation, indicated mainly by hypopigmentation of the retinal pigment epithelium (RPE). Due to its relative simplicity and ease, color preference screening using zebrafish larvae is suitable for high-throughput screening applications. This system may potentially be applied to the analysis of drug effects on larval behavior or the detection of sensory deficits in neurological disorder models, such as autism-related disorders, using mutant larvae generated by the CRISPR/Cas9 technique.

• 한국감성과학회:학술대회논문집
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• 한국감성과학회 2008년도 추계학술대회
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• pp.147-150
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• 2008

Vitamin C ascorbic acid (AA) and dehydroascorbic acid (DHA) as an antioxidant have been shown to have protective effects in experimental neurological disorder models such as stroke, ischemia, and epileptic seizures. The present study was conducted to examine the protective effect of AA and DHA on Kainic acid (KA) neurotoxicity using organotypic hippocampal slice cultures (OHSC). After 12h KA treatment, significant delayed neuronal death was detected in CA3 region, but not in CA1. Intermediate dose of AA and DHA pretreatment significantly prevented cell death and inhibit ROS level, mitochondrial dysfunction and capase-3 activation in CA3 region. In the case of low or high dose, however, AA or DHA pretreatment were not effective. These data suggest that both AA and DHA pretreatment have neuroprotective effects on KA-induced neuronal injury depending on the concentration, by means of inhibition of ROS generation, mitochondrial dysfunction, and caspase-dependent apoptotic pathway.