• Korean Journal of Clinical Laboratory Science
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• v.38 no.3
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• pp.179-183
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• 2006

Alzheimer's disease (AD) is characterised neuropathologically by the accumulation of neuritic plaques and neurofibrillary tangles as well as by cerebrovascular amyloid deposition and neuronal cell loss. Current advances have shown the apolipoproteinE-epsilon 4 (ApoE4) allele to be highly associated with late-onset familial and sporadic Alzheimer's disease (AD) in Western populations. The association of ApoE allele frequencies and dementia remains unknown in populations from many countries. We recently initiated a project to examine ApoE frequencies in non-demented healthy Koreans. Genomic DNA in hair root from a thousand persons was collected and ApoE gene type was investigated with the methods of polymerase chain reaction (PCR) and restriction fragment length polymorphism. A group of a thousand non-demented Koreans over the age of 40 years were found to be positive in 15.7% of the cases for ApoE4. AD and ApoE4 were closely related. ApoE epsilon 4 was a dangerous factor of AD and ApoE 4 allele made a contribution to the heterogenicity of AD.

• The Korean Journal of Legal Medicine
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• v.42 no.4
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• pp.159-163
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• 2018

Progressive muscular dystrophy (PMD) is a primary muscle disease characterized by progressive muscle weakness and wasting, which is inherited by an X-linked recessive pattern and occurs mainly in males. There are several types of muscular dystrophies classified according to the distribution of predominant muscle weakness including Duchenne and Becker, Emery-Dreifuss, facioscapulohumeral, oculopharyngeal, and limb-girdle type. Clinical manifestations of PMD are clumsy, unsteady gait, pneumonia, heart failure, pulmonary edema, hydropericardium, hydrothorax, aspiration, syncopal attacks, and sudden cardiac death. The deceased was a 34-year-old man, and the onset of the first clinical symptom, gait disturbance, was in his late teens. His elder brother had the same disease and experienced brain death after a head trauma and died after mechanical ventilation was discontinued. After an autopsy, we found contracture of the joints, pseudohypertrophy of the calf, wasting and fat replacement of the thigh muscle, pericardial effusion (80 mL), fibrosis and fat replacement of the cardiac ventricular wall, pulmonary edema, and froth in the bronchus. The cause of death was heart failure and dyspnea due to muscular dystrophy. There was no sign or suspicion of foul play in his death.

• Annals of Clinical Neurophysiology
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• v.23 no.2
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• pp.69-81
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• 2021

Cortico-cortical evoked potential (CCEP) mapping is a rapidly developing method for visualizing the brain network and estimating cortical excitability. The CCEP comprises the early N1 component the occurs at 10-30 ms poststimulation, indicating anatomic connectivity, and the late N2 component that appears at < 200 ms poststimulation, suggesting long-lasting effective connectivity. A later component at 200-1,000 ms poststimulation can also appear as a delayed response in some studied areas. Such delayed responses occur in areas with changed excitability, such as an epileptogenic zone. CCEP mapping has been used to examine the brain connections causally in functional systems such as the language, auditory, and visual systems as well as in anatomic regions including the frontoparietal neocortices and hippocampal limbic areas. Task-based CCEPs can be used to measure behavior. In addition to evaluations of the brain connectome, single-pulse electrical stimulation (SPES) can reflect cortical excitability, and so it could be used to predict a seizure onset zone. CCEP brain mapping and SPES investigations could be applied both extraoperatively and intraoperatively. These underused electrophysiologic tools in basic and clinical neuroscience might be powerful methods for providing insight into measures of brain connectivity and dynamics. Analyses of CCEPs might enable us to identify causal relationships between brain areas during cortical processing, and to develop a new paradigm of effective therapeutic neuromodulation in the future.

• Journal of Embryo Transfer
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• v.26 no.1
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• pp.45-51
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• 2011

This study investigated potential relationship between fetal deaths and plasma progesterone concentrations of bitches. Serial ultrasonographic examinations were performed on small-pet 23 dogs from gestation day (GD) 15 through parturition. The dogs were 3 non-pregnant bitches, 9 spontaneous delivery bitches, 6 partial early embryonic death bitches, 2 whole early embryonic death bitches, and 3 aborted bitches. The late pregnancy (GD 51-54) appeared in 2 of the 3 aborted bitches and the hypoluteoidism appeared in 1 of the 3 aborted bitches. The plasma progesterone concentrations of partial early embryonic death bitches (n=6) showed no significant difference when compared with the spontaneous delivery bitches. We observed that plasma progesterone concentrations were dramatic decrease before the onset of embryonic death in whole early embryonic death bitches that plasma progesterone concentrations of aborted bitches at late pregnancy were significantly decreased when compared with those of spontaneous delivery bitches. The plasma progesterone concentrations of the hypoluteoidism bitch were lower than those of spontaneous delivery bitches. At the hypoluteoidism bitch, fetuses were resorbed in early pregnancy and aborted in late pregnancy. On the basis of the results, the diagnosis of partial early embryonic death could not be confirmed without ultrasonographic examination. The partial early embryonic death was considered a spontaneous phenomenon and uncorrelated with plasma progesterone concentration. However, aborted bitches and whole early embryonic death bitches were related to plasma progesterone concentrations and that of bitches gradually decreased before fetal death. These findings suggest that administration of progesterone may be a useful preventing agent against fetal death.

• Journal of Trauma and Injury
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• v.26 no.3
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• pp.131-138
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• 2013

Purpose: The aim of this study is to present a retrospective review of patients who had a sudden onset of facial palsy after trauma and who underwent facial nerve decompression. Methods: The cases of 25 patients who had traumatic facial palsy were reviewed. Facial nerve function was graded according to the House-Brackmann grading scale. According to facial nerve decompression, patients were categorized into the surgical (decompression) group, with 7 patients in the early decompression subgroup and 2 patients in the late decompression subgroup, and the conservative group(16 patients). Results: The facial nerve decompression group included 8 males and 1 female, aged 2 to 86 years old, with a mean age of 40.8. In early facial nerve decompression subgroup, facial palsy was H-B grade I to III in 6 cases (66.7%); H-B grade IV was observed in 1 case(11.1%). In late facial nerve decompression subgroup, 1 patient (11.1%) had no improvement, and the other patient(11.1%) improved to H-B grade III from H-B grade V. A comparison of patients who underwent surgery within 2 weeks to those who underwent surgery 2 weeks later did not show any significant difference in improvement of H-B grades (p>0.05). The conservative management group included 15 males and 1 female, aged 6 to 66 years old, with a mean age of 36. At the last follow up, 15 patients showed H-B grades of I to III(93.7%), and only 1 patient had an H-B grade of IV(6.3%). Conclusion: Generally, we assume that early facial nerve decompression can lead to some recovery from traumatic facial palsy, but a prospective controlled study should and will be prepared to compare of conservative treatment to late decompression.

• Journal of Life Science
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• v.29 no.7
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• pp.800-808
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• 2019

Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.20-25
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• 2019

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

• Journal of Yeungnam Medical Science
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• v.17 no.1
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• pp.31-38
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• 2000

Background: We sought to examine the use and outcomes of early intraaortic balloon counterpulsation(IABP) combined with early reperfusion therapy in patients presenting cardiogenic shock complicated acute myocardial infarction. The usc of IABP in patients with cardiogenic shock is widely accepted. However there is not ample information on the use of this technique in patients with cardiogenic shock who arc treated with reperfusion therapy in Korea. Materials and Methods: Twenty-eight patients presented with cardiogenic shock were classified into two groups: the early IABP group (insertion within 12 hours after AMI onset time) and the late IABP group (insertion after 12 hours). We compared In-hospital mortality between the two groups (early IABP group vs late IABP group). Results: Two groups showed no significant difference in clinical feature and coronary angiographic results. Among total 28 patients, 7 patients were treated with thrombolytic therapy and 21 patients with PTCA. Insertion site bleeding, fever, thrombocytopenia were reported as some of the complications of IABP insertion. In-hospital mortalities in the early IABP group and late IABP group were 4 patients(25%) and 8 patients(66%), respectively(p<0.05). Early IABP insertion and early PTCA showed lower hospital mortality rates. There was significant difference in the time to PTCA after AMI onset between the two groups(p<0.05). Conclusion: IABP appears to be useful in patients presenting cardiogenic shock unresponsive medical therapy. Early IABP insertion and early reperfusion therapy may reduce in-hospital mortality rates of post-MI cardiogenic shock patients.

• Journal of the Geological Society of Korea
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• v.54 no.5
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• pp.489-499
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• 2018

A series of geological events such as the formation of the Antarctic continental ice sheets, the changes in ocean circulation and a mass extinction after the onset of Oligocene has been studied as major concerns by various researches. However, paleoclimatic and paleoceanographic changes during the most period of Oligocene since the Eocene-Oligocene transition (EOT) still remains unclear. Especially, although the late Oligocene warming (LOW) has been assessed as the largest period in the paleoceanographic changes, the detailed understanding on the changed components is very low. The purpose of this study is the reconstruction of the paleoceanographic history during the late Oligocene using core sediments from IODP Expedition 342 Site U1406 performed in J-Anomaly Ridge in North Atlantic. Because North Atlantic deep water (NADW) has flowed southward through the study area since the early Oligocene, this area has been considered to an important location for studies on the changes of NADW. The core sediment analyzed in this study were deposited from about 26.0 to 26.5 Ma as evidenced by both of onboard and shore-based paleomagnetic data, and this is corresponded to the earliest period of LOW. The sediment profile can be divided into three Units (Unit 1, 2 & 3) based on the changes in both of total number and test size of Oridorsalis umbonatus as well as grain size data of clastic sediments. Unit 2 represents largest values in these three data. Because the total number, test size of O. umbonatus and grain size can be proxy records on the oxygen concentration and circulation intensity of deep water, we interpreted that Unit 2 had been deposited during the period of relatively strengthened NADW. Previous Cibicidoides spp. stable isotope results from the low latitude region of the North Atlantic also support our interpretation that is the intensified formation of NADW during the identical period. In conclusion, our results present a new evidence for the previous ideas that the causes on LOW are directly related to the changes in NADW.

• Clinical and Experimental Reproductive Medicine
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• v.39 no.1
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• pp.33-39
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• 2012

Objective: We devised a novel strategy, a GnRH antagonist protocol with a GnRH agonist trigger followed by frozen-thawed blastocyst transfers with long zona dissection (LZD). The purpose of this study was to investigate the clinical outcomes of this new strategy according to age. Methods: Ninety women aged less than 35 (group A) and 32 women aged 35 to 39 (group B) underwent the GnRH antagonist protocol with a GnRH agonist trigger in order to obtain many oocytes and prevent early-onset ovarian hyperstimulation syndrome (OHSS). All oocytes were cultured to the blastocyst stage and all blastocysts grade 3BB or better were cryopreserved. Embryo transfers were only performed in freeze-thaw cycles to prevent late-onset OHSS and to overcome embryo-endometrium dyssynchrony. LZD was performed just after thawing to improve hatching and implantation rates. Results: The average numbers of retrieved oocytes and blastocysts grade 3BB or better were $12.8{\pm}5.5$ and $4.4{\pm}2.6$ in group A and $10.9{\pm}7.4$ and $2.5{\pm}2.2$ in group B, respectively, and OHSS did not occur in any of the women. Implantation rates were 46.7% in group A and 39.3% in group B. Cumulative clinical pregnancy rates per retrieval were 77.8% in group A and 62.5% in group B. Cumulative ongoing pregnancy rates per retrieval were 71.1% in group A and 53.1% in group B. Conclusion: GnRH antagonist protocol with GnRH agonist trigger followed by frozen-thawed blastocyst transfers with LZD can generate many blastocysts without OHSS and maximize cumulative pregnancy rates per retrieval. This strategy is more effective in young women aged less than 35 than in women aged 35 to 39.