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Yeom Gyeong Eun,Jung Young Hwa,Kim Soo Yeon,Choi Sun Ah,Kim Hunmin,Choi Chang Won 대한신생아학회 2022 Neonatal medicine Vol.29 No.4
Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by rigidity, intractable multifocal seizures, microcephaly, apnea, and bradycardia immediately after birth. RMFSL is related to a mutation in breast cancer 1-associated ataxia telangiectasia mutated activation-1 protein (BRAT1). We report a case of a female infant born to non-consanguineous Korean parents who developed hypertonia, dysmorphic features, progressive encephalopathy with refractory seizures at birth, and worsening intermittent apnea, leading to intubation and death at 137 days of age. The initial repeated electroencephalographic findings were normal; however, a pattern of focal seizures emerged at 35 days of life. Rapid trio whole-exome sequencing revealed heterozygous mutations c.1313_1314delAG p.(Gln438Argfs*51) and c.1276C>T p. (Gln426*) in BRAT1. After genetic counseling for pregnancy planning, a preimplantation genetic diagnosis for targeted BRAT1 mutations was successfully performed, and a healthy baby was born. To our knowledge, this is the first reported case of a Korean patient with compound heterozygous mutations in BRAT1. An early and accurate genetic diagnosis can help provide timely treatment to patients and indicate the need for reproductive counseling for parents for family planning.
( Seong Eun Kim ),( In Kyoung Lee ),( Yun A Jung ),( Ji Hee Yeom ),( Dae Won Ki ),( Myeong Seok Lee ),( Ja Gyeong Song ),( Yong Ju Jin ),( Soon Ja Seok ),( Bong Sik Yun ) 한국균학회 2012 Mycobiology Vol.40 No.2
Mushrooms collected from Deogyu mountain, Korea, in 2011, were identified as four classes, four orders, 13 families, 22 genera, and 33 species, In particular, agaricales was most abundant and comprised more than 70%, Their antioxidant activities were estimated using three different bioassay methods, the 2, 2`-azino-bis(3-ethylbenzothiazoline-6-sulfonate) (ABTS) radical scavenging assay, 1,1-diphenyl-2-picrylhydrazyl (DPPH) radical scavenging assay, and reducing power assay. As a result, the methanol extracts of Stereum ostrea, Laetiporus sulphureus var. miniatus, and Tyromyces sambuceus exhibited potent antioxidant activity in all bioassays tested.
Premature Ovarian Failure with Autosomal Translocation: a Case Report
( Yesol Kim ),( Do Won Jeong ),( Eun Gyeong Lee ),( Seung Rae Yeom ),( Yeon Suk Kim ),( Jun Sik Park ),( Seung Do Choi ) 대한산부인과학회 2014 대한산부인과학회 학술대회 Vol.100 No.-
Premature ovarian failure (POF) is a condition in which the ovarian functions of hormone production and oocyte development become impaired before the typical age for menopause. POF and early menopause are present in a broad spectrum of gonad dysgenesis, from a complete cessation of ovarian function to an intermittent follicle maturation failure. Actually POF has been identified as a genetic entity (especially chromosome X), but data on genetic factors of premature menopause are limited. Until now, several cases revealed that inactivation of X chromosomes has an effect on ages of premature menopause and females with balanced or unbalanced X-autosome translocations can have several reproductive problems. On the other hand, there have been a few data that was caused by autosome-autosome translocation can lead. Therefore we report a relevant case of POF with translocation between chromosomes 1 and 4. She had her first menstrual period at the age of 12, and after 7 years she stopped menstruation. Chromosomal analysis showed 46, XX, t(1;4)(p22.3;q31.3). While evaluating this rare case, we could review various causes (especially genetic factors) of POF. To remind clinicians about this disease, we report a case of POF caused by autosome-autosome translocation with a literature review.
권혜진 ( Kwon Hye Jin ),노은선 ( No Eun Seon ),권선숙 ( Kwon Seon Sug ),김경희 ( Kim Gyeong Hui ),염순교 ( Yeom Sun Gyo ),송미승 ( Song Mi Seung ),조주연 ( Jo Ju Yeon ) 한국정신간호학회 2003 정신간호학회지 Vol.12 No.2
N/A Hospitalization is a life experience cause stress and these stress was indicated human character to confront with multiple factors. This study was designed to identify admission experiences of the patients in the hospital. The findings are expected to contribute to the development of a nursing theory helpful to nursing practice. The subjects were 8 patients. Data were collected by recording and transcribing interviews and analyzed in the framework of grounded theory as mapped out by Strauss and Corbin(1998). The core category in the analysis of the phenomenon of patient`s admission experience was unfamiliarity. In the process of data analysis, 173 concepts, 42 subcategories were identified, These subcategories were again grouped into 11. 4 hypotheses were confirmed as follows : 1) The subjects tend to use all available strategies including positive, negative and emotional coping strategies and get stabilized if the decision for hospitalization was made by others; if the state of ailment is serious ; if the ward environment is unfavorable; if the medical staff are unkind and arrogant but they have abundant supportive system. 2) The subjects tend to adopt a positive coping strategy and get stabilized if the decision for hospitalization was made by others; if the state of ailment is acute but not serious; if the ward environment is favorable and the medical staff are kind. 3) The subjects tend to rely on a negative coping strategy and get frustrated if the decision for hospitalization was made by themselves; if the state of ailment is serious; if the ward environment is unfavorable and the medical staff unkind, if they have scanty supportive system. 4) Some of the subjects tend use a positive coping strategy and get stabilized but the others tend to rely on a negative coping strategy and get frustrated; if the decision for hospitalization was made by others; if the state of ailment is chronic; if awkwardness is not intense and the ward environment is favorable and medical staff are kind though they have scanty supportive system.
Mice 소장의 Cajal 세포에서 기록되는 향도잡이 전류의 특성
장성종 ( Jang Seong Jong ),조은택 ( Jo Eun Taeg ),허광식 ( Heo Gwang Sig ),박찬국 ( Park Chan Gug ),김만우 ( Kim Man U ),장인엽 ( Jang In Yeob ),신무경 ( Sin Mu Gyeong ),차경훈 ( Cha Gyeong Hun ),염철호 ( Yeom Cheol Ho ),전제열 ( 대한소화기학회 2003 대한소화기학회지 Vol.42 No.2
Background/Aims: Gastrointestinal motility is initiated by the periodic generation of slow waves. Interstitial cells of Cajal (ICC) are pacemaker cells that generate slow waves and drive spontaneous mechanical contractions of the gastrointestinal smooth muscle. Slow waves generate the periodic activation of spontaneous inward currents (pacemaker currents). The aim of this study was to investigate the characterization of pacemaker currents of ICC. Methods: The ICC in mice small intestine were cultured with stem cell factor for 2 days, and then we recorded pacemaker currents and slow waves using a whole-cell patch clamp technique. Results: Under voltage clamp at -80 mV of holding potential, ICC generated pacemaker currents. Tetrodotoxin and nifedipine did not affect on the pacemaker currents. In addition, tetraethylammonium, 4-aminopyridine and glibenclamide did not affect on the pacemaker currents. The reduction of external Na+ concentrations inhibited pacemaker currents. Moreover, these currents were completely abolished in the external Ca2+-free condition. Gadolinium and flufenamic acid, inhibitors of non-selective cationic currents, inhibited pacemaker currents. Thapsigargin and cyclopiazoic acid, inhibitors of Ca2+-ATPase in endoplasmic reticulum, abolished pacemaker currents. Carbachol depolarized membrane potential and increased inward currents. Conclusions: These results suggest that pacemaker currents are mediated by the activation of non-selective cation channel and become a target of neurotransmitters in regulation of intestinal motility. (Korean J Gastroenterol 2003;42:121-127)
목장원유의 경시별 유질 변화 및 보존제 사용에 관한 연구
문진산,주이석,임숙경,장금찬,김종염,표수일,사혁,배은아,Mun Jin San,Ju Lee Seok,Im Suk Gyeong,Jang Geum Chan,Kim Jong Yeom,Pyo Su Il,Sa Hyeok,Bae Eun A 대한수의사회 1999 대한수의사회지 Vol.35 No.3
The differences in milk payment systems with regard to price determination, quality standards are large among countries. but the nature of payment systems were related to milk quality and hygienic qualitys. The number of samples for analysis varied agains