• Title/Summary/Keyword: Onset

Search Result 4,754, Processing Time 0.038 seconds

Identification of Compound Heterozygous Alleles in a Patient with Autosomal Recessive Limb-Girdle Muscular Dystrophy (상염색체 열성 지대형 근이영양증 환자로부터 TTN 유전자의 복합 이형접합성 대립유전자의 분리)

  • Choi, Hee Ji;Lee, Soo Bin;Kwon, Hye Mi;Choi, Byung-Ok;Chung, Ki Wha
    • Journal of Life Science
    • /
    • v.31 no.10
    • /
    • pp.913-921
    • /
    • 2021
  • Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

Effects of Schisandrae Fructus and Corni Fructus Extracts on the Proliferation and Expression of Prostatic Hyperplasia-inducing Factors in Dihydrotestosterone-stimulated LNCaP Human Prostate Carcinoma Cells (오미자와 산수유 추출물이 dihydrotestosterone가 처리된 LNCaP 인간 전립선 암세포의 증식 및 전립선 비대 유발 인자 발현에 미치는 영향)

  • Kim, Min Yeung;Ji, Seon Yeong;Hwangbo, Hyun;Lee, Hyesook;Kim, Tae Hee;Yoon, Seonhye;Kim, Hyun Jin;Kim, Sung Yeon;Kim, Tae Jung;Kim, Min Ji;Jung, Ha Eun;Choi, Yung Hyun
    • Journal of Life Science
    • /
    • v.31 no.10
    • /
    • pp.885-897
    • /
    • 2021
  • Schisandrae Fructus (SF) and Corni Fructus (CF) have been used for a long time for the prevention and treatment of various diseases. Although reports have highlighted the possibility of inhibiting the onset and progression of benign prostatic hyperplasia (BPH), studies on related mechanisms are still lacking. In this study, we investigated the potential of SF and CF in improving BPH by using a dihydrotestosterone (DHT)-induced in vitro BPH model using LNCaP prostate carcinoma cells. According to our results, water and ethanol extracts of SF and CF significantly inhibited the proliferation of LNCaP cells by DHT treatment and markedly downregulated the expression of DHT-induced BPH biomarkers and growth factors. They also regulated the expression of apoptosis regulatory factors and significantly reduced DHT-mediated oxidative stress. In addition, the protective effect on major factors involved in the pathogenesis of BPH was more effective in the ethanol extract treatment group than in the water extract group. Furthermore, the improvement effect on BPH was higher in the 1:1 combined treatment group than in the ethanol extract alone treatment group of SF and CF, and 60% ethanol extracts showed a better effect than 40% ethanol extracts. Therefore, our findings demonstrate that SF and CF can protect against BPH by preventing the hyperproliferation of prostate cells through the inhibition of the androgen signaling pathway, which was correlated with their antioxidant activities. Therefore, SF and CF extracts may be useful in the clinical treatment of BPH, and the combination of these two extracts can be synergistic.

Somatic Cell Analysis and Cobalamin Responsiveness Study in Ten Korean Patients with Methylmalonic Aciduria (한국 메틸말로닌산혈증 환아 10례에서 Somatic Cell 분석과 cobalamin 반응성 연구)

  • Lim, Han Hyuk;Song, Wung Joo;Kim, Gu-Hwan;Watkins, David;Rosenblatt, David S.;Kim, Yoo-Mi;Chang, Mea Young;Kil, Hong Ryang;Kim, Sook Za
    • Journal of The Korean Society of Inherited Metabolic disease
    • /
    • v.19 no.1
    • /
    • pp.12-19
    • /
    • 2019
  • Purpose: Isolated methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder of propionate metabolism. There are two subtypes of MMUT gene defects. $Mut^0$ represents complete loss of methylmalonyl-CoA mutase (MCM) activity while mut- is associated with residual MCM activity, which can be stimulated by hydroxocobalamin (OHCbl) supplementation. The objective of this study is to investigate cobalamin responsiveness and mutations present in Korean MMA population. Methods: We evaluated 10 MMA patients using somatic cell complementation analysis on their fibroblasts to measure MCM activity and vitamin B12 responsiveness for the optimal treatment. MMUT gene was sequenced to identify the MMA mutations. Results: For all patients, the incorporation of $[^{14}C]-propionate$ was low, and there was no response to OHCbl. The incorporation of $[^{14}C]-methyltetrahydrofolate$ and $[^{57}Co]-CNCbl$ fell within the normal range. There was adequate synthesis of methylcobalamin while the synthesis of adenosylcobalamin was low. The complementation analysis showed all patients were $mut^0$. The sequence analysis identified 12 different MMUT mutations, including 2 novel mutations, p.Gln267Ter and p.Ile697Phe, were identified. All the patients in this study had neonatal onset of symptoms, belonged to $mut^0$ complementation class, and as a result, showed no cobalamin responsiveness. Conclusion: No Korean MMA patient showed cobalamin responsiveness.

  • PDF

The strengthening of North Atlantic Deep Water during the late Oligocene based on the benthic foraminiferal species Oridorsalis umbonatus (저서성 유공충 Oridorsalis umbonatus의 산출 상태에 기록된 후기 올리고세 북대서양 심층수의 강화)

  • Lee, Hojun;Jo, Kyoung-nam;Lim, Jaesoo
    • Journal of the Geological Society of Korea
    • /
    • v.54 no.5
    • /
    • pp.489-499
    • /
    • 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.

Epidemiological investigation on the outbreak of foodborne and waterborne disease due to Norovirus with delayed notification (노로바이러스에 기인한 수인성·식품매개감염병 집단발생의 지연신고에 대한 역학조사)

  • Ha, Mikyung;Kim, Hyeongsu;Kim, Yong Ho;Na, Min Sun;Yu, Mi Jung
    • Journal of agricultural medicine and community health
    • /
    • v.43 no.4
    • /
    • pp.258-269
    • /
    • 2018
  • Objectives: There was an outbreak of foodborne and waterborne disease among high school students at Okcheon in June, 2018. First attack occurred June $5^{th}$ but seven days later it was notified. The purpose of this investigation was to evaluate the pathogen of outbreak and cause of delayed notification. Methods: First, we did a questionnaire survey for 61 cases and 122 controls to find what symptoms they had and whether they ate foods or drank water from June $2^{nd}$ to June $12^{th}$. Second, we investigated the environment of cafeteria and drinking water. Third, we examined specimen of cases and environment to identify bacteria or virus. Results: Attack rate of this outbreak was 7.8%. Drinking water was strongly suspected as a source of infection in questionnaire survey but we could not find the exact time of exposure. Norovirus was identified in specimen of cases (2 students), drinking water (at main building and dormitory) and cafeteria (knife, dishtowel, hand of chef) Conclusions: We decided norovirus as the pathogen of this outbreak based on the clinical features of cases with diarrhea vomiting, abdominal pain and recovery within 2 or 3 days after onset, outbreak due to drinking water and microbiologic examination, And the cause of delayed notification might be the non-existence of the nurse teacher at that time and the lack of understanding of teachers on immediate notification under the outbreak. To prevent the delayed notification, notification system about outbreak of foodborne and waterborne disease in school is needed to be improved.

The Effects of a Brief Intervention for Insomnia on Community Dwelling Older Adults (지역 사회 노인을 대상으로 한 불면증 단기 치료 프로그램의 효과)

  • Oh, Eui Sun;Park, Kyung Mee;An, Suk Kyoon;Namkoong, Kee;Shim, Da-hye;Lee, Eun
    • Sleep Medicine and Psychophysiology
    • /
    • v.25 no.2
    • /
    • pp.74-81
    • /
    • 2018
  • Objectives: Insomnia is one of the major concerns in the elderly population. Cognitive behavioral treatment for insomnia is the first line treatment option, but there are some limitations including time and cost burdens and the requirement for sufficient cognitive resources to obtain a proper treatment effect. The Brief intervention for insomnia (BII) is a treatment that focuses on behavioral aspects of insomnia in primary care practices. The purpose of this study was to evaluate the effects of BII in community-dwelling older adults. Methods: A total of 47 older adults with insomnia were enrolled from community centers between May 2016 and January 2018. They participated in the BII program for three weeks. We gathered sleep-related participant information with using the Pittsburgh sleep quality index (PSQI), the Sleep hygiene index, and a sleep diary. Clinical efficacy was evaluated by comparing total sleep time (TST), sleep latency (SL), waking after sleep onset (WASO), and sleep efficiency (SE) before and after the treatment. Results: There was significant improvement in sleep-related features after BII. Global score and sleep quality from the PSQI, freshness, and WASO from the sleep diary showed statistically significant improvement. Conclusion: We found BII showed positive clinical efficacy in community dwelling older adults, especially from the perspective of subjective sleep quality and WASO. This finding implies that BII can be effectively applied for the managment of elderly insomnia patients in a community setting.

The Physiologic change associated with aging, essential nutrients and their diseases in senior or geriatric dogs (노령견의 생리적 변화에 따른 필요 영양소 및 질병에 관한 연구)

  • Jung, Hyung-hak
    • Journal of the Korean Applied Science and Technology
    • /
    • v.35 no.4
    • /
    • pp.1456-1471
    • /
    • 2018
  • This article discusses the nutritional requirements, reviews senior or geriatric dog nutritional evaluation, and then addresses some common nutrition-related problems in older dogs. The purpose of this study was to investigate the Physiologic change associated with aging, essential nutrients and their diseases in senior or geriatric dog subjects. According to a 2002 market research, 30% to 40% of dogs raisedin the United States are 7 years of age. In Europe the number of dogs considered to be "senior or geriatric" (>7 years of age) increased by approximately 50% between 1983 and 1995. A 2012 e-mail survey of 50,347 respondents revealed that 33.2% of dogs were 6 to 10 years of age and 14.7% were older than 11 years in the United States. The average life expectancy of dogs raised in the home is affected by health care, aging and nutrition.And, the aging process is influenced by breed size, genetics, nutrition, environment, and other factors. Although many pets remain active and youthful well into their teens, most dogs start to slow down and may show signs of aging beginning as early as 5 or 6 years of age. Improvements in the control of various diseases and in the nutrition of dogs have resulted in a gradual increase in the average lifespan of companion dogs. Nutritional goals for aging dogs include supporting health and vitality, preventing the onset or slowing the progression of age-related health disorders, and enhancing the dog's quality of life and, if possible, life expectancy. Aging brings with its physiologicchanges. Some changes are obvious, such as whitening of hair, a general decline in body and coat condition, and failing senses including sight and hearing. Other changes are less obvious, however, and these include alterations in the physiology of the digestive tract, immune system, kidneys, and other organs. Nutritional requirements can change with age. In addition, many diseases common in older dogs may be nutrient-sensitive, meaning that diet can play an important role in the management of the condition.

Decomposition of Eco-friendly Liquid Propellants over Ruthenium/Al2O3/metal foam Catalysts (Ru/Al2O3/메탈폼 촉매를 이용한 친환경 액체추진제 분해)

  • Yoo, Dalsan;Jeon, Jong-Ki
    • Clean Technology
    • /
    • v.25 no.3
    • /
    • pp.256-262
    • /
    • 2019
  • Hydroxylammonium nitrate (HAN)-based liquid propellants are attracting attention as environmentally friendly propellants because they are not carcinogens and the combustion gases have little toxicity. The catalyst used to decompose the HAN-based liquid propellant in a thruster must have both low temperature activity and high heat resistance. The objective of this study is to prepare an Ru/alumina/metal foam catalyst by supporting alumina slurry on the surface of NiCrAl metal foam using a washing coating method and then to support a ruthenium precursor thereon. The decomposition activity of a HAN aqueous solution of the Ru/alumina/metal foam catalyst was evaluated. The effect of the number of repetitive coatings of alumina slurry on the physical properties of the alumina/metal foam was analyzed. As the number of alumina wash coatings increased, mesopores with a diameter of about 7 nm were well-developed, thereby increasing the surface area and pore volume. It was optimal to repeat the wash coating alumina on the metal foam 12 times to maximize the surface area and pore volume of the alumina/metal foam. Mesopores were also well developed on the surface of the Ru/alumina/metal foam catalyst. It was found that the metal form itself without the active metal and alumina can promote the decomposition reaction of the HAN aqueous solution. In the case of the Ru/alumina/metal foam-550 catalyst, the decomposition onset temperature was significantly lowered compared with that of the thermal decomposition reaction, and ${\Delta}P$ could be greatly increased in the decomposition of the HAN aqueous solution. However, when the catalyst was calcined at $1,200^{\circ}C$, the catalytic activity was lowered inevitably because the surface area and pore volume of the catalyst were drastically reduced and Ru was sintered. Further research is needed to improve the heat resistance of Ru/alumina/metal foam catalysts.

Hepatoprotective Effects of Semisulcospira libertine Hydrolysate on Alcohol-induced Fatty Liver in Mice (알코올성 지방간 유발 마우스에서 다슬기 유래 가수분해물의 간 보호 효과)

  • Song, Eun Jin;Cho, Kyoung Hwan;Choo, Ho Jin;Yang, Eun Young;Jung, Yoon Kyoung;Seo, Min Gyun;Kim, Jong Cheol;Kang, Eun Ju;Ryu, Gi Hyung;Park, Beom Yong;Hah, Young-Sool
    • Food Engineering Progress
    • /
    • v.21 no.4
    • /
    • pp.318-325
    • /
    • 2017
  • Alcoholic steatosis is a fundamental metabolic disorder and may precede the onset of more severe forms of alcoholic liver disease. In this study, we isolated enzymatichydrolysate from Semisulcospira libertine by alcalase hydrolysis and investigated the protective effect of Semisulcospira libertine hydrolysate on liver injury induced by alcohol in the mouse model of chronic and binge ethanol feeding (NIAAA). In an in vitro study, the hydrolysate protects HepG2 cells from ethanol toxicity. Liver damage was assessed by histopathological examination, as well as by quantitating activities of serum aspartate aminotransferase (AST), alanine aminotransferase (ALT), and alkaline phosphatase (ALP). After the administration of S. libertina hydrolysate, fat accumulation and infiltration of inflammatory cells in liver tissues were significantly decreased in the NIAAA mouse model. The elevated levels of serum AST, ALT, and ALP activities, along with the lipid contents of a damaged liver, were recovered in experimental mice administrated with S. libertina hydrolysate, suggesting its role in blood enzyme activation and lipid content restoration within damaged liver tissues. Moreover, treatment with S. libertine hydrolysate reduced the expression rate of cyclooxygenase (COX-2), interleukin $(IL)-1{\beta}$, and IL-6, which accelerate inflammation and induces tissue damage. All data showed that S. libertine hydrolysate has a preventive role against alcohol-induced liver damages by improving the activities of blood enzymes and modulating the expression of inflammation factor, suggesting S. libertine hydrolysate could be a commercially potential material for the restoration of hepatotoxicity.

A Comparison of the Effects between Eye-Mask and Light-Off Conditions on Psychiatric Patient Sleep (야간 조명 하 안대와 소등의 수면에 대한 효과 비교)

  • Shin, Juyong;Lim, Kyoung-Ok;Cho, Seongnam;Jang, Soyeong;Cha, Seung-Min;Han, Songyi;Kim, Moojin
    • Sleep Medicine and Psychophysiology
    • /
    • v.28 no.1
    • /
    • pp.27-33
    • /
    • 2021
  • Objectives: The purpose of this study is to investigate the difference in the effects of eye-mask and light-off on sleep status according to a commercial fitness tracker and a sleep diary of psychiatric in-patients in correctional facilities where nocturnal light is compulsory. Methods: This study was conducted over 3 consecutive nights. In-patients of the National Forensic Psychiatric Hospital (n = 29) were assigned random subject numbers and slept as usual in the light-on condition on the first night. The subjects slept with eye-masks in the light-on condition on another night and without an eye-mask in the light-off condition on the other night. Subjects were asked to sleep wearing a commercial fitness tracker and to keep a sleep diary. The order of these changes in bedroom lighting condition on the second and third nights was assigned randomly to participants. Results: In comparison of the sleep variables between the light-on condition and the eye-mask condition, the Wakefullness After Sleep Onset (WASO) was shorter and sleep satisfaction was higher in the latter.(respectively, Z = 3.66, p < 0.017 ; Z = 2.69, p < 0.017) In comparison of the sleep variables between the light-on and light-off conditions, the WASO was shorter and sleep efficiency and sleep satisfaction were higher in the latter (respectively, Z = 2.40, p < 0.017 ; Z = 3.02, p < 0.017 ; Z = 3.88, p < 0.017). However, there were no differences in the sleep variables between the eye-mask condition and the light-off condition. Conclusion: Subjective improvements in sleep variables were noted in sleep diaries of institutionalized psychiatric patients under either the 'eye-mask' or 'light-off' condition. However, there were no significant differences between the 'eye-mask' and 'light-off' conditions. Therefore, we suggest that psychiatric patients in correctional facilities use eye-masks when sleeping.