• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.4
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• pp.259-262
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• 2017

Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.

• Neonatal Medicine
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• v.16 no.1
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• pp.1-9
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• 2009

Seizures are the most common clinical manifestation of a neurologic insult during the neonatal period. Neonatal seizures continue to present a diagnostic and therapeutic challenge to pediatricians because the recognition and classification of neonatal seizures remains problematic, particularly when clinicians rely only on clinical criteria. Neonatal seizures can permanently disrupt neuronal development, induce synaptic reorganization, alter plasticity, and "prime" the brain to increased damage from seizures later in life. Since neonatal seizures, particularly status epilepticus, predict an increased risk for later epilepsy and other neurologic sequelae, accurate diagnoses are needed for aggressive antiepileptic drug use. The present review summarizes the pathophysiology, etiology, and diagnosis of neonatal seizures.

• Annals of Clinical Neurophysiology
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• v.8 no.1
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• pp.71-73
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• 2006

Many neurologic signs are found in Miller Fisher syndrome (MFS) especially including pupillary abnormalities. But when internal ophthalmoparesis is first manifestation in MFS, diagnosis may be difficult in acute phase of illness. We report two cases of MFS presenting with internal ophthalmoplegia. Pupillary areflexia may be involved in acute phase of MFS. When acute bilateral internal ophthalmoparesis is encounted in clinical practice, initial manifestation of MFS should be included in differential diagnosis.

• Imaging Science in Dentistry
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• v.32 no.1
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• pp.49-53
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• 2002

Orofacial pain can be caused by intracranial disorders or can be musculoskeletal, vascular, internal derangemental, and neurologic in origin. The neurologic pain is derived from structural and functional disorders of nerve, and the trigeminal neuralgia is the typical manifestation. Trigeminal neuralgia is known from centuries ago, and is one of the most common pains in human. We present our experience with three patients who have trigeminal neuralgia. The first case is a 50-year-old female who had no specific evidence radiographically. Second is a 50-year-old male with microvascular compression on right trigeminal nerve. The third case is a 60-year-old female who had a neoplasm in cerebellopontine angle with associated mass effect.

• Clinical and Experimental Pediatrics
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• v.53 no.5
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• pp.639-643
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• 2010

Purpose: Hand-foot-mouth disease (HFMD) is a common viral illness in children, which is usually mild and self-limiting. However, in recent epidemics of HFMD in Asia, enterovirus 71 (EV71) has been recognized as a causative agent with severe neurological symptoms with or without cardiopulmonary involvement. HFMD was epidemic in Korea in the spring of 2009. Severe cases with complications including death have been reported. The clinical characteristics in children with neurologic manifestations of EV71 were studied in Ewha Womans University Mokdong Hospital. Methods: Examinations for EV71 were performed from the stools, respiratory secretion or CSF of children who presented neurologic symptoms associated with HFMD by realtime PCR. Clinical and radiologic data of the patients were collected and analyzed. Results: EV71 was isolated from the stool of 16 patients but not from respiratory secretion or CSF. Among the 16 patients, meningitis (n=10) was the most common manifestation, followed by Guillain-Barre syndrome (n=3), meningoencephalitis (n=2), poliomyelitis-like paralytic disease (n=1), and myoclonus (n=1). Gene analysis showed that most of them were caused by EV71 subgenotype C4a, which was prevalent in China in 2008. Conclusion: Because EV71 causes severe complications and death in children, a surveillance system to predict upcoming outbreaks should be established and maintained and adequate public health measures are needed to control disease.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.28-33
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• 2018

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of ${\alpha}$-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma ${\alpha}$-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.

• Journal of Acupuncture Research
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• v.22 no.6
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• pp.1-15
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• 2005

Objectives : The aim of this study was to investigate the effect of Peucedani Radix herbal acupuncture(PR-HA) at St36(joksamni) on ovalbumin-induced asthma in mice. Methods : C57BL/6 mice were sensitized and challenged with OVA(ovalbumin) for 12 weeks(once a week) C57BL/6 mice were injected, inhaled and sprayed with OVA for 12 weeks (3times a week). One of the two experimental groups was just treated with needle-prick on St36 and the other group was treated with 1% concentrations of PR-HAS at St36, for the later 8 weeks (3times /week). Results : 1. The weight and total cells of lung of the mice group treated with PR-HA decreased significantly compared with those of control group. 2. Total Leukocytes and Eosinophils in BALF of the mice group treated with PR-HA decreased significantly compared with those of control group. 3. Eosinophils in BALF of the mice group treated with PR-HA in Photomicrographs decreased significantly compared with those of control group. 4. According to Histological analysis of lung sections, it decreased significantly adhension of collagen in PR-HA than those of control group 5. The concentration of IgE, IL-4, IL-5, in BALF and IL-4, IL-5, Il-13 in serum of the mice group treated with PR-HA decreased significantly compared with that of control group. 6. The number of Gr-1+/CD11b+, CD11b+, CD3-/CCR3+, CD4+, CD3e+/CD69+ , CD23+B220+ cells in the lungs of the mice group treated with PR-HA decreased significantly compared with those of control group. 7. The cytokine's manifestation of mRNA of the mice group treated with PR-HA with RT-PCR decreased significantly compared with that of control group. Conclusion : We conclude that PR-HA is effective on OVA-induced asthma of C57BL/6 mouse.

• Journal of Korean Neurosurgical Society
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• v.51 no.3
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• pp.144-146
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• 2012

Parkinsonism secondary to intracranial mass lesions usually results from compression or distortion of the basal ganglia. Secondary parkinsonism due to midbrain infiltration or compression is rare and generally associated with other neurologic signs caused by pyramidal tract and/or cranial nerve involvement. We report a case of 30-year-old woman in whom mild parkinsonism was the major clinical manifestation of an astrocytoma in the anterior third ventricle and hypothalamus. She underwent surgical resection, ventriculoperitoneal shunt and radiation therapy. All symptoms of parkinsonism were completely recovered 3 months after the treatment. Brain tumors can be manifested only by the symptoms of parkinsonism. This case emphasizes the significance of neuroimaging in the evaluation of parkinsonism.

• Journal of Chest Surgery
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• v.53 no.6
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• pp.403-407
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• 2020

To validate the technique of the single Heartstring aortotomy for multiple off-pump venous bypass grafts (described in 2015), the results of a 38-month follow-up study of 18 patients, including high-risk patients, are presented. No early deaths or cardiac or cerebral complications occurred. During the follow-up period, 2 patients died of non-cardiac causes, and 3 developed coronary ischemia. Ischemia occurred due to late graft occlusion in 2 patients, both of whom had normal postoperative courses and correct graft flow. The presence of acute symptoms 24 months after surgery in these patients indicated that technical graft failure was unlikely. This safe technique combines the advantages of simple and reproducible revascularization, the off-pump approach, and minimal aortic manipulation.

• Journal of Korean Neurosurgical Society
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• v.58 no.2
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• pp.137-140
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• 2015

The most common neurologic manifestations of polycythemia vera (PV) are cerebral infarction and transient ischemic attacks, while cerebral hemorrhage or intracranial dissection has been rarely associated with PV. Here we report the first case of a 59-year-old patient with intracranial supraclinoid internal carotid artery (ICA) dissection causing cerebral infarction and concomitant subarachnoid hemorrhage due to pseudoaneurysm rupture as clinical onset of PV. This case report discusses the possible mechanism and treatment of this extremely rare condition.