• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.118-126
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• 2015

Background and objectives: A deficiency of BH4 (tetrahydrobiopterin) not only causes the classical phenylketonuric phenotype, but also is the source of neurological signs and symptoms due to impaired syntheses of L-Dopa and serotonin. The treatment of BH4 deficiency usually consists of replacement with BH4 and the neurotransmitters. We performed this study to finding out long-term follow-up clinical symptoms and prognosis of BH4 deficiency. Methods: Clinical and biochemical, genetic analysis were done retrospectively from January 1999 to July 2015 in Soonchunhyang University Hospital. Results: In our study, total 207 patients were confirmed to hyperphenylalaninemia. Among them, 10 patients were BH4 deficiency. 9 patients were 6-pyruvoyl-tetrahydropterin (PTPS) deficiency and one patient was dihydropteridine reductase (DHPR) deficiency. The patients who received delayed treatment, most of our patients suffered from severe psychomotor retardation, hypotonia and seizure. c.259C>T mutation was identified most commonly in PTPS gene analysis. A patient with DHPR deficiency had a mental retardation, dystonia, seizure. His seizure semiology was dialeptic feature. His EEG showed generalized spike wave patterns. All patients had treated with tolerate L-Dopa, BH4 and 5-hydroxytryptophan. Most of the early treated patients have a good tolerance for drugs well. But some patients had neurologic symptoms, despite early detection and treatment. Conclusion: BH4 deficiency patients who had delayed treatment tend to have severe psychomotor problem and neurologic deficits.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.11 no.1
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• pp.88-98
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• 2011

Lesch-Nyhan syndrome is a X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine-guanidine phosphoribosyltransferase (HPRT), enzyme to recycle purines. Case history: born induced vaginal delivery at 40 weeks complicated by premature membrane ruputure, body weight 2.820 gm. He showed failure to thrive showing severe protein aversion like milk products and pink daper. Developmental delay revealing rolling over at 10.5 month, followed by regression. Seizure at 2 months, His poor oral feeding was lifelong problem. Weak crying, spastic, choreoathetoid movement. Self mutilating behavior noted and diagnosed at age 3 years. No family history of consanguinity and neurological disorders. Method: Laboratory test, physical exam, imaging study and molecular. Clinical follow up Treat ment with allopurinol. Result: uric acid 10.5 mg/dL (N 3.5-7.9), APRT 151.1uM/ min/ml pro(25.7-101), HPRT 7.6 (N 233.5-701) and c.151C>T hemizygote (p,Arg51X). Abdominal sonogram showed staghorn calculi in both kidneys, brain MRI brain atrophy. Clinical follow up showed, seizure at 2 mo, developmental delay (head control and, rolling over at at 11mo, pointing body part at 2 yr 7 mo, eye hand coordination at 2 y 11mo,creeping at 3 y 7 mo, speaking words at 6 y 6 mo ),and developmental regression at 3 yr of age. Sleeping problem including insomnia and severe constipation. Self mutilating behavior (lip bite) started at 2.5 yr, neurologic sx including intermittent upward gaze accompanied by swallowing difficulty at 3 y 7 mo grand mal seizure at 4.5 yr and spastic extremity and trunchal hypotonia and choleoathetoid movement and ataxia at 6.5 yr. Scoliosis with severe spasticity at 9 yr 9 mo. Acute life threatening episode with irregular breathing at 9 yr and 9 mo, Emaciation and nephrolithiasis and recurrent pneumonia. Died suddenly at 10 yr 3 mo. Conclusion: life long feeding problem, chronic gut motility dysfunction, sleeping difficulty and progressing neurologic deterioration and nephrolithiasis despite normal serum uric acid maintence by allopurinol treatment.

• Journal of Chest Surgery
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• v.33 no.8
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• pp.630-637
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• 2000

Backgroud: There are well-known problems in the management of low weight neonates or infants with congenital heart defects. In the past, because of a perceived high risk of operations using cardiopulmonary bypass(CPB) in these patients, there was a tendency for staged palliation without the use of CPB. However, the recent trend has been toward early reparative surgery using CPB, with acceptable mortality and good long-term survival. Therefore we reviewed our results of the operations in infants weighing less than 3kg and considered the technical aspect of conducting the CPB including myocardial protection. Material and Method: Between Jan. 1995 and Jul. 1998, 28 infants weighing less than 3kg underwent open heart surgery for many cardiac anomalies with a mean body weight of 2.7kg(range; 1.9-3.0kg) and a mean age of 41days(range; 4-110days). Preoperative management in the intensive care unit was needed in 20 infants and preoperative ventilator support therapy in 11. Total correction was performed in 23 infants and the palliative procedure in 5. Total circulatory arrest was needed in 11 infants(39%). Result: There were seven hospital deaths(25%) caused by myocardial failure(n=3), surgical failure(n=2), multiorgan failure(n=1), and sudden death(n=1). The median duration of hospital stay and intensive care unit stay were 13days(range; 6-93days) and 6days(range; 2-77days) respectively. The follow-up was achieved in 21 patients and showed three cases of late mortality(15%) and a one-year survival rate of 62%. No neurologic complications such as clinical seizure and intracranial bleeding were noticed immediately after surgery and during follow-up. Conclusion: The early and late mortality rate of open heart surgery in our infants weighing less than 3 kg stood relatively high, but the improved outcomes are expected by means of the delicate conduct of cardiopulmonary bypass including myocardial protection as well as the adequate perioperative management. Also, the longer follow-up for the neurologic development and complications are needed in infants undergoing circulatory arrest and continuous low flow CPB.

• Korean Journal of Head & Neck Oncology
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• v.14 no.2
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• pp.175-181
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• 1998

Objectives: The authors tried to analyze the results of carotid artery sacrifice with or without preoperative carotid evaluation. Materials and Methods: Thirteen patients undergone carotid sacrifice were evaluated. Carotid balloon occlusion test (BOT) and single-photon emission computed tomography (SPECT) with technetium-99m-labeled hexamethylpropyleneamineoxime ($^{99m}Tc-HMPAO$) were used for preoperative carotid evaluation. Results: The causes of carotid artery sacrifice consisted of the neck mass involving the carotid artery, spontaneous aneurysmal rupture, and traumatic pseudoaneurysm. Five patient had postoperative neurologic complications and two of them had permanent neurologic deficits. Conclusion: The authors stress that the preoperative evaluation in carotid artery sacrifice is imperable, and the BOT with SPECT can be used in selecting the method of treatment. But since these tests cannot predict the postoperative outcome perfectly, careful perioperative care of the patients should be exercised regardless of the results of the preoperative evaluation.

• Korean Journal of Head & Neck Oncology
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• v.24 no.2
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• pp.174-178
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• 2008

Background and Objectives：Peripheral nerve sheath tumors(PNSTs) are uncommon neoplasm in the head and neck region. The treatment of PNSTs is surgical removal, but excision cause neurologic complications. This study was performed to evaluate the proper diagnosis and treatment of PNSTs with our experiences. Subjects and Method：During the period from October 1994 to July 2007, 58 patients were diagonised with PNSTs in head and neck region. We reviewed medical records and imaging study retrospectively. Result：95%(55/58) of the PNSTs in head and neck were benign；5%(3/58) were malignant peripheralnerve sheath tumors(MPNSTs). 63%(37/58) were neurilemoma, 20%(17/20) were neurofibroma, 2%(1/58) was perineuroma. 55 patients underwent surgery. 80%(45/55) of cases were treated with excision. Enucleation was performed in 7(14%) patients. All cases of benign neurogenic tumors showed no recurrence. Among 3 of MPNSTs 2 patients were Von Recklinghausen’s disease and expired with regional recurrence and lung metastasis. Conclusion：The benign PNSTs can be treated with enucleation if possible and observation can be another choice to minimize neurologic sequele.

• Korean Journal of Bronchoesophagology
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• v.13 no.1
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• pp.23-28
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• 2007

Background and Objectives: Since intractable aspiration in patients with impaired protective function of the larynx often results in multiple episode of aspiration pneumonia, repeated hospitalizations and expensive nursing care. The authors reported the preliminary results of laryngotracheal separation(LTS) in patient with chronic intractable aspiration. The purpose of this study was to report the follow up results of patient outcome with the LTS. Materials and Methods: A retrospective review of 15 patients who underwent LTS between 1996 and 2006 was conducted. Ages ranged from 3 to 72 years. Results: Eight patients had morbid aspiration as a consequence of acquired neurologic injuries and seven patients with congenital neurologic injuries. Two patients had a postoperative fistula, which was well controlled with local wound care. Following LTS, aspiration was effectively controlled in all patients and eight were able to tolerate a regular diet. Conclusion: LTS is a low-risk, successful, definitive procedure which decreases the potential for aspiration, pulmonary complications, duration of hospitalizations and increases quality of life, especially in patent with irreversible upper airway dysfunction and poor speech potential.

• Journal of The Korean Society of Clinical Toxicology
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• v.11 no.1
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• pp.28-30
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• 2013

A 66-year-old male with chronic alcoholism presented with tremor, gait disturbance, memory impairment, insomnia, decreased appetite, and confusion. The patient had been taking lithium daily for treatment of bipolar disorder. Brain CT showed no specific abnormality, and serum lithium and ammonia levels were 3.63 mEq/L (therapeutic range, 0.6~1.2 mEq/L) and $85{\mu}g/dL$ (reference range: $19{\sim}54{\mu}g/dL$), respectively. Therefore, the initial differential diagnosis included chronic lithium intoxication, hepatic encephalopathy, Wernicke encephalopathy, or alcohol withdrawal syndrome. Even with the provision of adequate hydration, the patient's neurologic status did not show improvement, so that lactulose enema, thiamine replacement, and continuous venovenous hemodiafiltration (CVVHDF) were started on the third admission day. By the fifth admission day he had made a rapid neurologic recovery, and was discharged on the 20th admission day. Therefore, CVVHDF might be a treatment for patients with chronic lithium intoxication, because, even if serum lithium concentration is normal, lithium concentration in the brain may be different from that of the serum.

• The Korean Journal of Rehabilitation Nursing
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• v.4 no.1
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• pp.94-104
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• 2001

The purpose of this study was to analysis of nursing interventions performed by the ICU nurses to the patients with cerebrovascular disorder practically from one university hospital in Seoul. The data were collected from 15 nurses with 86 cerebrovascular disorder cases from one ICU with the questionaire to write frequency of nursing care done by the surveyee from May, 2, 2000 to July, 3, 2000 and the list of 66 nursing interventions selected out of 433 NIC(Nursing Interventions Classification) of Iowa University which were translated into Korean (44 items) and core nursing interventions by ICU nurses (22 items; KIm, Su-Jin, 1997). The data were analysed with SPSS program. The results are as follow : 1. The most frequently used nursing interventions were vital sign monitoring, fall prevention, cerebral edema management, dysreflexia management, neurologic monitoring, cardiac care, communication enhancement, technology management, bed rest care, respiratory monitoring in rank. 2. The most frequently used nursing intervention domains were 'Physiological : Complex', 'Physiological : basic', 'Behavior', 'Safty', 'Health system' in rank. In the domain of physiological : basic, the most frequently used nursing interventions were bed rest care, urinary elimination management, tube care : urinary, physical restraints in rank. In the domain of physiological : complex, the most frequently used nursing interventions were cerebral edema management, dysreflexia management, neurologic monitoring, cardiac care in rank. In the domain of behavior, the most frequently used nursing interventions were communication enhancement, touch, active listening in rank. In the domain of safty, the most frequently used nursing interventions were vital sign monitoring, fall prevention in rank. In the domain of health system, the most frequently used nursing interventions were technology management, specimen management in rank. 3. some difference of the frequency practicing the nursing interventions according to the shift of duties was found. For example, medication administration was common at day duty, touch was practiced at evening duty, temperature regulation was performed.

• Journal of Haehwa Medicine
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• v.8 no.1
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• pp.379-401
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• 1999

The effect of KamiTongJonHaaATang extracts on hypercholesterolemia, platelet aggregation, pulm onary thrombosis, KCN-induced coma, forcal brain ischemia, cytotoxicity of PC12 cells induced by amyloid ${\beta}$ protein(25-35), and NO production in RAW cells stimulated lipopolysaccharide were investigated, respectively. The results were summarized as follows; 1. KTJHAT extracts showed a significant decrease of serum total cholesterol, triglyceride, phospholipid, LDL-cholesterol, and VLDL-cholesterol in hypercholesterolemia induced by 2% cholesterol diet in NZW rabbit. 2. KTJHAT extracts induced a significant inhibition of human platelet aggregation induced by thrombin and ADP but did not affect human platelet aggregation induced by collagen. 3. KTJHAT extracts showed a protective effect on pulmonary thrombosis induced by collagen and epinephrine. 4. KTJHAT extracts prolonged the duration of KCN-induced coma. 5. KTJHAT extracts showed a significant decrease of brain ischemic area and edema in MCA occlusion. Also, KTJHAT extracts showed a decrease of neurologic grade in hind limb but did not affect neurologic grade in fore limb. 6. KTJHAT extracts showed a protective effect on cytotoxicity of PC 12 cells induced by amyloid ${\beta}$ protein(25-35) in a dose dependent manner. 7. KTJHAT extracts showed a significant decrease of NO production in RAW cells induced by lipopolysaccharide. These results suggested that KTJHAT extracts might be usefully applied for prevention and treatement of thrombosis and brain damage.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.32 no.4
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• pp.380-383
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• 2006

Tetanus is rare in Korea due to the introduction of vaccination programs and the advancement in public health. Its common signs are trismus, voice disturbance, neck stiffness, and difficulty in swallowing, etc. A 56 years old man was injured by grasping a high voltage electric cable. After the accident, he fell down on a steel plate and had a head trauma. When he visited Emergency Department, there was multiple electric burn wound on left arm and left facial area. He was hospitalized on a department of neurosurgery, because intra cranial hemorrhage was presumed. 12 days later, he was referred to department of OMFS with developed painful masseter spasms and trismus. That night he violently bit his tongue with his denture. Because masseter muscle and temporal muscle constriction was involuntary, tongue was lacerated and denture was distorted. At first we supposed that the symptom was related with neurologic disturbance following head trauma or electric shock. But it was revealed that trismus was caused by tetanus on an electrophysiological test. By using mechanical ventilation and administration of tetanus immunoglobulin, muscle-relaxant, and sedatives at ICU, symptoms had subsided (4-weeks). Because tetanus is rare disease, we rarely suppose tetanus infection to be a cause of a trismus. Especially it is more difficult to diagnose in patient who has head trauma, burn and neurologic problem as in this case.