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A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A
Kang, Sa-Yoon,Ko, Keun Hyuk,Oh, Jung-Hwan The Korean Society of Clinical Neurophysiology 2019 Annals of Clinical Neurophysiology Vol.21 No.1
Axonal Charcot-Marie-Tooth disease (CMT2) has most frequently been associated with mutations in the MFN2 gene. MFN2 encodes mitofusin 2, which is a mitochondrial fusion protein that plays an essential role in mitochondrial function. We report CMT2 in a Korean father and his son that manifested with gait difficulties and progressive atrophy of the lower legs. Molecular analysis revealed a novel heterozygous c.2096T>C (p.Leu699Pro) mutation in the exon 18 of MFN2 in both subjects. We suggest that this novel mutation in MFN2 is probably a pathogenic mutation for CMT2.
A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A
Sa-Yoon Kang,Keun Hyuk Ko,Jung-Hwan Oh 대한임상신경생리학회 2019 Annals of Clinical Neurophysiology Vol.21 No.1
Axonal Charcot-Marie-Tooth disease (CMT2) has most frequently been associated with mutations in the MFN2 gene. MFN2 encodes mitofusin 2, which is a mitochondrial fusion protein that plays an essential role in mitochondrial function. We report CMT2 in a Korean father and his son that manifested with gait difficulties and progressive atrophy of the lower legs. Molecular analysis revealed a novel heterozygous c.2096T>C (p.Leu699Pro) mutation in the exon 18 of MFN2 in both subjects. We suggest that this novel mutation in MFN2 is probably a pathogenic mutation for CMT2.
Prognosis of patients with postural tachycardia syndrome: a follow-up study
Sa-Yoon Kang,Hong Jun Kim,Keun Hyuk Ko 대한임상신경생리학회 2019 Annals of Clinical Neurophysiology Vol.21 No.1
Background: Postural tachycardia syndrome (POTS) refers to the presence of orthostatic intolerance symptoms associated with a heart rate increment of greater than 30 beats/min, usually up to 120 beats/min, on head-up tilt test. Symptoms related to POTS are usually lightheadedness, palpitations and tremor, but syncope can also occur. The pathophysiology of POTS is heterogeneous and its prognosis is uncertain. Methods: We prospectively evaluated patients who met the criteria for POTS, at baseline and follow-up, using composite autonomic symptom scores and autonomic tests to assess the autonomic function. We compared the clinical and autonomic test results between baseline and follow-up. Results: Sixty-eight patients met the inclusion criteria for POTS and forty-five patients were ultimately followed up for at least 1 year after baseline. The patients were predominantly young females (84%), with a mean age of 21 years. Most patients showed improved orthostatic symptoms and more than a quarter of patients had no longer met the criteria for POTS at follow-up. Conclusions: Most patients had a benign outcome in that they could resume their daily activities without great limitations. Our results demonstrated a relatively favorable prognosis in most patients with POTS.
Prognosis of patients with postural tachycardia syndrome: a follow-up study
Kang, Sa-Yoon,Kim, Hong Jun,Ko, Keun Hyuk The Korean Society of Clinical Neurophysiology 2019 Annals of Clinical Neurophysiology Vol.21 No.1
Background: Postural tachycardia syndrome (POTS) refers to the presence of orthostatic intolerance symptoms associated with a heart rate increment of greater than 30 beats/min, usually up to 120 beats/min, on head-up tilt test. Symptoms related to POTS are usually light-headedness, palpitations and tremor, but syncope can also occur. The pathophysiology of POTS is heterogeneous and its prognosis is uncertain. Methods: We prospectively evaluated patients who met the criteria for POTS, at baseline and follow-up, using composite autonomic symptom scores and autonomic tests to assess the autonomic function. We compared the clinical and autonomic test results between baseline and follow-up. Results: Sixty-eight patients met the inclusion criteria for POTS and forty-five patients were ultimately followed up for at least 1 year after baseline. The patients were predominantly young females (84%), with a mean age of 21 years. Most patients showed improved orthostatic symptoms and more than a quarter of patients had no longer met the criteria for POTS at follow-up. Conclusions: Most patients had a benign outcome in that they could resume their daily activities without great limitations. Our results demonstrated a relatively favorable prognosis in most patients with POTS.
Sa-Yoon Kang,Joong Goo Kim,Jung Hwhan Oh 대한임상신경생리학회 2020 Annals of Clinical Neurophysiology Vol.22 No.2
The most common form of autosomal recessive hereditary spastic paraplegia (HSP) is caused by mutations in SPG11/KIAA1840 gene, which encodes for spatacsin. The clinical presentation of SPG11 is characterized by cognitive impairment, peripheral neuropathy and a thin corpus callosum in brain magnetic resonance imaging. We identified a novel homozygous nonsense mutation (c.6082C>T [p.Q2028]) in exon 32 of SPG11 in Korean siblings. Our findings suggest that this novel homozygous mutation in SPG11 is associated with HSP and with dysgenesis of the corpus callosum.
타목시펜과 프레드니솔론으로 호전된 경화성 피막성 복막염 (sclerosing encapsulating peritonitis)
정지윤 ( Ji Yoon Jung ),장원익 ( Won Ik Jang ),윤지현 ( Ji Hyun Yoon ),김의식 ( Eui Sik Kim ),정사라 ( Sa Rah Chung ),최대은 ( Dae Eun Choi ),나기량 ( Ki Ryang Na ),이강욱 ( Kang Wook Lee ),강대영 ( Dae Young Kang ),신영태 ( Young 대한신장학회 2009 Kidney Research and Clinical Practice Vol.28 No.6
Sclerosing encapsulating peritonitis (SEP) is an uncommon but serious complication of long-term peritoneal dialysis (PD). Entrapment of the intestine in fibrous tissue, causing complete intestinal obstruction, is referred to as SEP. The usual clinical presentation is with partial or complete small bowel obstruction, ascites, abdominal mass, or impaired peritoneal ultrafiltration. Conservative treatment carries a poor outcome and surgery has offered variable results. Even though there is no established medical treatment, immunosuppressive drugs, steroid and tamoxifen are often used. Tamoxifen is a nonsteroidal anti-estrogenic drug commonly used in the management of breast cancer. To our knowledge, this is the first case of sclerosing encapsulating peritonitis successfully treated with tamoxifen and prednisolone in Korea. Recently, we have treated three SEP patients with tamoxifen and prednisolone. All three patients showed clinical improvement within a few months.
Kang, Shin-Ho,Kim, Min-Ki,Yang, Jeong-Oh,Yoon, Chang-Mann,Goh, Sang-Hyun,Shin, Sang-Chul,Kim, Chul-Sa,Kim, Gil-Hah The Korean Society for Applied Biological Chemistr 2009 Applied Biological Chemistry (Appl Biol Chem) Vol.52 No.5
Recently, the pine sawyer Monochamus saltuarius has been proved as a vector of pinewood nematode, Bursaphelenchus xylophilus in South Korea. This pest causes serious concern that widely distributed in the middle of South Korea and most likely to spread fast. To understand their ecological behavior, the attraction behavior of the pine sawyer was tested in the volatile samples of Pinus koraiensis by emitting different host condition. The olfactory response of the immature (0~3 days old after emergence) adults of M. saltuarius preferred the volatiles from the fresh host condition (fresh twigs, just cut twigs which wrapped with the parafilm), whereas the mature (20~30 days old) adults preferred the volatiles from the 3-day old stressed host (twigs infested by male and female, 3-day old cut twigs that were artificially damaged). In the GC and GC/MS analyses, contrary to the samples from the fresh host condition having monoterpene volatiles only, the samples from the 3-day old stressed host were revealed to have more volatiles of oxygenated monoterpenes and sesquiterpenes. The attraction assay of M. saltuarius adults to the volatile mixtures of monoterpenes, oxygenated monoterpene, and sesquiterpene appeared to be efficient when the oxygenated monoterpene mixture was necessarily treated with monoterpene mixtures.