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Pericentric Inversion of the X Chromosome in a Male with Azoospermia and in the Family of a Pregnant Female Carrier (무정자증을 보이는 남성과 정상 생식력을 가진 여성의 가계에서 관찰된 X 염색체의 Pericentric Inversion)

  • Lee, Bom-Yi;Ryu, Hyun-Mee;Lee, Moon-Hee;Park, Ju-Yeon;Kim, Jin-Woo;Lee, Joong-Shik;Kim, Hye-Ok;Kim, Min-Hyung;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.139-144
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    • 2008
  • We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year-old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of thepregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.

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Studies on the Processing Conditions and the Taste Compounds of the Sardine Sauce Extracts (속성 정어리간장 엑스분의 가공조건 및 정미함분에 관한 연구)

  • LEE Eung-Ho;JEE Seung-Kil;AHN Chang-Bum;KIM Jin-Soo
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.21 no.1
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    • pp.57-66
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    • 1988
  • As a method of utilization of sardine, the processing conditions of the sardine sauce extracts and the taste compounds of products were investigated. To prepare the sardine sauce extracts, chopped sardine was mixed with $1\%$, onion powder, $1\%$ garlic powder, $1\%$ red pepper powder, loft koji and $50\%$ water, and then hydrolyzed under different conditions of hydrolysis. The optimum conditions for hydrolysis were $55^{\circ}C$, 6 hours, pH 6.5-7.0. After hydrolysis, the hydrolysates were heated at $100^{\circ}C$ for 20 minutes with $5\%$ soybean protein isolate for inactivation of enzymes and improvement of bitter taste of the hydrolysates. Finally, $10\%$ salt was added to develop the characteristic taste of sauce extracts. The major taste compounds of the products were free amino acids, non-volatile organic acids and nucleotides and their related compounds. The major free amino acids in the products were arginine, histidine, lysine, glutamic acid, phenylalanine, leucine and alanine. The contents of these free amino acids were in the range of $68.2\%\;to\;69.9\%$ of the total free amino acids of products. The major non-volatile organic acids ill the products were lactic acid and $\alpha-ketoglutaric$ acid which occupied more than $95\%$ of total non-volatile organic acids. The contents of free amino acids, non-volatile organic acids and nucleotides and their related compounds were not changed during storage. Total creatinine, betaine and TMAO were seemed to act an auxiliary role in taste of the products. Judging from the results of chemical experiments and sensory evaluation, the product prepared with koji and soybean protein isolate was excellent as seasoning materials.

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Ethanol Extract of Mori Folium Inhibits AICAR-induced Muscle Atrophy Through Inactivation of AMPK in C2C12 Myotubes (C2C12 근관세포에서 상엽에 의한 AMPK의 불활성화와 AICAR로 유도된 근위축 억제의 연관성에 관한 연구)

  • Lee, Yu Sung;Kim, Hong Jae;Jeong, Jin-Woo;Han, Min-Ho;Hong, Su Hyun;Choi, Yung Hyun;Park, Cheol
    • Journal of Life Science
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    • v.28 no.4
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    • pp.435-443
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    • 2018
  • AMP-activated protein kinase (AMPK) functions as a metabolic master through regulating and restoring cellular energy balance. In skeletal muscle, AMPK increases myofibril protein degradation through the expression of muscle-specific ubiquitin ligases. Mori Folium, the leaf of Morus alba, is a traditional medicinal herb with various pharmacological functions; however, the effects associated with muscle atrophy have not been fully identified. In this study, we confirmed the effects of AMPK activation by examining the effects of 5-aminoimidazole-4-carboxamide ribonucleotide (AICAR), an activator of AMPK, on the induction of atrophy and expression of atrophy-related genes in C2C12 myotubes. We also investigated the effects of the ethanol extract of Mori Folium (EEMF) on the recovery of AICAR-induced muscle atrophy in C2C12 myotubes. It was found that exposure to AICAR resulted in the stimulation of Forkhead box O3a (FOXO3a); an up-regulation of muscle-specific ubiquitin ligases such as Muscle Atrophy F-box (MAFbx)/atrogin-1 and muscle RING finger-1 (MuRF1), and a down-regulation of muscle-specific transcription factors, such as MyoD and myogenin; with the activation of AMPK. In addition, AICAR without cytotoxicity indicated a decrease in diameter of C2C12 myotubes. However, treatment with EEMF significantly suppressed AICAR-induced muscle atrophy of C2C12 myotubes in a dose-dependent manner as confirmed by a decrease in myotube diameter, which is associated with a reversed stimulation of FOXO3a by the inhibition of AMPK activation. These results indicate that the activation of AMPK by AICAR induces muscle atrophy, and EEMF has preeminent effects on the inhibition of AICAR-induced muscle atrophy through the AMPK signaling pathway.

Physicochemical Changes of Swine Manure by the Treatment of Acid and Alkali for Inactivation of Pathogenic Microorganisms (병원성미생물의 불활성화를 위한 산·알칼리처리가 양돈분뇨의 이화학적 성상에 미치는 영향)

  • Kim, Cho-Long;Kim, Soo-Ryang;Kim, Ha-Je;Jeon, Sang-Joon;Han, Ho;Kim, Dong-Kyun;Lee, Myung-Gyu
    • Journal of Animal Environmental Science
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    • v.18 no.3
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    • pp.229-234
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    • 2012
  • Disinfecting contaminated swine manure with FMD (Foot-and-Mouth Disease) and pathogenic viruses is very important for maintaining sanitized environment. However, very few research reported on this subject, especially post-disinfection to utilize the wastes as a renewable resource. This research is carried out to obtain basic information for chemical treatment in FMD SOP (Standard Operating Procedure, Korea) of contaminated swine manure. Using lime, sodium hydroxide, citric acid and hydrochloric acid, described in FMD SOP, the effects of chemical treatments on livestock manure were compared in this paper. Four combinations of alkali-acid treatments and four kinds of acid-alkali combinations were tested to find out the effective method. Total coliform bacteria in contaminated swine manure, $1.6{\times}10^4$ CFU/100 ml, decreased to the range of 1/1000~1/100 in all treatments. Some specific disinfectants increases BOD (Biochemical Oxygen Demand) and EC(Electric Conductivity), especially, alkaline treatments increases ammonia level than acid treatments. These findings suggest that the treatment methods should be considered as an important environmental factor in post-disinfection of contaminated animal manure with pathogenic microorganisms.

Genetic Alteration of Tumor Suppressor Gene and Microsatellite in Nonsmall Cell Lung Cancer (비소세포폐암에서 종양억제유전자와 극소위성 변이에 관한 연구)

  • Shin, Tae-Rim;Hong, Young-Sook;Kim, Jhin-Gook;Chang, Jung-Hyun
    • Tuberculosis and Respiratory Diseases
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    • v.49 no.4
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    • pp.453-465
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    • 2000
  • Background : Lung carcinogenesis is a multistage process involving alterations in multiple genes and diverse pathway. Mutational activation of oncogenes and inactivation of tumor suppressor genes, and subsequent increased genetic instability are the major genetic events. The p53 gene and FHIT gene as tumor suppressor genes contribute to the pathogenesis of lung cancer, evidenced by mutation, microsatellite instability(MI) and loss of heterozygosity(LOH). Methods : We analysed genetic mutations of p53 and FHIT gene in 29 surgical specimens of nonsmall cell lung cancer using PCR-single strand conformation polymorphism, DNA sequencing and RT-PCR. MI and LOH were analyzed in loci of D3S1285, D9S171, and TP53. Results : In 2 cases, point mutation of p53 gene was observed on exon 5. MI of 3 times and LOH of 14 times were observed in at least one locus. In terms of the location of microsatellite, D3S1285 as a marker of FH1T was observed in 5 cases out of 26 specimens; D9S171 as a marker of p16 in 5 out of 17; and TP53 as a marker of p53 in 7 out of 27. In view of histologic type, squamous cell carcinoma presented higher frequency of microsatellite alteration, compared to others. Mutation of FHIT gene was observed in 11 cases and 6 cases of those were point mutation as a silent substitution on exon 8. FHIT mRNA expression exhibited deletion on exon 6 to 9 in 4 cases among 15 specimens, presenting beta-actin normally. Conclusion : Our results show comparable frequency of genetic alteration in nonsmall cell lung cancer to previous studies of Western countries. Microsatellite analysis might have a role as a tumor marker especially in squamous cell carcinoma. Understanding molecular abnormalities involved in the pathogenesis could potentially lead to prevention, earlier diagnosis and the development of novel investigational approaches to the treatment of lung cancer.

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Quality Properties of the Refrigerated or Frozen Irradiated Beef Patty (방사선조사된 패티용 분쇄우육의 가열전 품질특성)

  • Jeon, Ki-Hong;Oh, Se-Wook;Lee, Nam-Hyouck;Kim, Yun-Ji;Park, Ki-Jae;Kim, Young-Ho
    • the MEAT Journal
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    • s.36 summer
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    • pp.72-86
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    • 2009
  • Microbial reduction, physicochemical property, and sensory evaluation of irradiated beef patty were investigated. The microbial counts of refrigerated beef patty were reduced to below the number of 3 logs after irradiation at 3 kGy. But no viable microorganism was detected in frozen beef patty irradiated at 3 kGy. Food additives such as nitrite, salt, phosphate and ascorbic acid did not affect on the inactivation of microorganism by irradiation. The irradiation effect on the water holding capacity was not significant, but frozen irradiated beef patty showed higher water holding capacity than refrigerated beef patty. The drip loss of irradiated beef patty did not show significant differences according to irradiation doses. Considering the influence of food additives, the irradiated beef patty mixed with salt and phosphate showed lower drip loss than that without food additives. In refrigerated beef patty, TBARS values were increased with increase of irradiation doses and showed lower values in the beef patty mixed with food additives than that without food additives. The redness of refrigerated beef patty showed highest values at 3 kGy of irradiation and then decreased with increasing irradiation doses, while in the frozen beef patty did not show distinct tendency according to the irradiation doses or food additives. In sensory evaluation. the irradiated beef patty showed unpleasant smell as compared with the non irradiated beef patty, but showed somewhat higher score in smell at the sample contained ascorbic acid regardless of irradiation doses.

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IL-1 AND TNF-α RELEASE IN HUMAN POLYMORPHONUCLEAR LEUKOCYTES AFTER EXPOSURE TO CALCIUM HYDROXIDE TREATED Porphyromonas endodontalis LIPOPOLYSACCHARIDE (수산화칼슘 처리된 Porphyromonas endodontalis Lipopolysaccharide가 다형핵백혈구의 IL-1과 TNF-α 생성에 미치는 영향에 관한 연구)

  • Park, Chan-Je;Park, Dong-Sung;Yoo, Hyeon-Mee;Oh, Tae-Seok;Lim, Sung-Sam
    • Restorative Dentistry and Endodontics
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    • v.27 no.5
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    • pp.463-472
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    • 2002
  • Bacterial lipopolysaccharide (LPS) plays a major role in stimulating the synthesis and release of the principal osteoclast-activating cytokines, namely, interleukin 1 and tumor necrosis factor-$\alpha$ from immune cells. Although rnonocytes/macrophages are the main producers of these cytokines, recent evidence has indicated that polymorphonuclear leukocytes (PMN) have the ability to release IL-1 and TNF-$\alpha$. Calcium hydroxide has been shown to be an effective medicament in root canal infections, reducing the microbial titre within the canal. It has been proposed that the therapeutic effect of Ca(OH)$_2$ may also be the result of direct inactivation of LPS. The purpose of this study was to investigate whether treatment of Porphyromonas endodontalis LPS with calcium hydroxide alters its biological action as measured by human PMN secretion of IL-1 and TNF-$\alpha$, and it was compared with Escherichia coli LPS. P. endodontalis ATCC 35406 was cultured in anaerobic condition, and LPS was extracted using the hot-phenol water extraction method and purified. Purchased E. coli LPS was also purified. 100 $\mu\textrm{g}$/ml of each LPS in pyrogen free water were incubated with 25mg/ml Ca(OH)$_2$ at 37$^{\circ}C$ for 7 days. The supernatants were subjected to ultrafiltration, and the isolates were lyophilized and weighed. PMNs were obtained from peripheral blood by centrifugation layered over Lymphoprep. The cells were resuspended (4$\times$10$^6$ cells/ml) in RPMI 1640 followed by treatment with various concentrations of LPS (0, 0.1, 1, 10$\mu\textrm{g}$/ml) for 24 hours at 37$^{\circ}C$ in 5% $CO_2$ incubator. The supernatants of cells were collected and the levels of IL-1$\alpha$, IL=1$\beta$ and TNF-$\alpha$ were measured by enzyme-linked immunosorbent assay. The results were as follows ; 1. The levels of IL-1$\alpha$, IL-1$\beta$, TNF-$\alpha$ from PMN treated with each LPS were significantly higher than those released from unstimulated PMN of the control group (p<0.05). 2. The levels of all three cytokines released from PMN stimulated with each calcium hydroxide treated LPS were significantly lower than those released from PMN stimulated with each untreated LPS (p<0.05), while they were not significantly different from those released from unstimulated PMN of the control group (p>0.05) 3. The levels of secretion for all three cytokines were affected in a dose-dependent manner in PMN stimulated with each LPS (p<0.05), but not in PMN stimulated with each calcium hydroxide treated LPS (p>0.05). 4. The levels of all three cytokines released from PMN stimulated with p. endodontalis LPS were significantly lower than those released from PMN stimulated with E coli LPS (p<0.05).

PROCESSING OF DRILL SOLUBLE AND ITS AMINO ACID COMPOSITION (Krill solube의 가공 및 아미노산 조성)

  • LEE Eung-Ho;KIM Se-Kwon;CHO Duck-Jae;HAN Bong-Ho
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.12 no.4
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    • pp.235-240
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    • 1979
  • A study on the amino acid composition of raw frozen krill, and krill solubles manufactured in forms of paste and powder has been carried out. The raw frozen krill was thawed, chopped, mixed and homogenized with same amount of water. The mixture was autolyzed or hydrolyzed by tile addition of $0.2\%$ pronase-p, a commercial proteolytic enzyme, to the weight of the raw frozen krill at $45^{\circ}C$ for 4 hours. After a thermal inactivation of enzymes at $95^{\circ}C$ for 15 minutes, the autolysate and the hydrolysate were centrifuged and filtered through gauzes, respectively, and then tile lipid layer in the supernatant was removed, The autolysate and the hydrolysate were finally concentrated under reduced atmospheric pressure in a rotary vacuum evaporator at $45^{\circ}C$ for 1 hour to produce the krill solubles in form of paste. The powdered krill solubles were prepared by the addition of $5\%$ starch to the autolysate and hydrolysate and by means of concentration in the rotary vacuum evaporator at $45^{\circ}C$ for 30 minutes and a forced air drying at $58^{\circ}C$ for 3 hours with a air velocity of 3m/sec. Among the amino acids in raw frozen krill, glutamic acid, lysine, and aspartic acid showed high values in quantity and then followed leucine, alanine, arginine, glycine and proline. The qnantity of histidine was very small and that of cystine was only in trace. The krill solubles in forms of paste and powder prepared by autolysis and hydrolysis with pronase-p revealed almost the same patterns in amino acid composition as in raw frozen krill. In case of free amino acids, a large quantity of it in raw frozen krill consisted of lysine, arginine, proline, alanine and leucine. The quantities of cystine, histidine and glutamic acid were, in contrast, very small. In the soluble krill paste prepared by autolysis, lysine, leucine, threonine and alanine existed in large quantities among the free amino acids and cystine, aspartic acid and histidine existed in small quantities. The contents of almost all of the free amino acids ill soluble krill paste perpared by hydrolysis with pronase-p were increased slightly as compared with those in soluble krill paste prepared by autolysis. In this product, the contents of cystine, histidine and serine were very low and lysine, leucine, arginine and proline were the dominant group in quantities among the free amino acids. The krill solubles in forms of paste and powder were not inferior to whole egg in the view point of its essential amino acid composition.

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Thermal-Denaturation of File Fish Myofibrillar Protein and Protective Effect of Sucrose, Sorbitol and Amino Acids (말쥐치 근원섬유단백질의 열안정성과 및 가지 첨가제의 영향)

  • CHOI Young-Joon;PYEUN Jae-Hyeung
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.18 no.5
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    • pp.455-463
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    • 1985
  • Thermal-denaturation of myofibrillar protein of dorsal skeletal muscle from file fish was investigated by measuring denaturation constant($K_D$) and thermodynamic parameters at various temperatures. The protective effects of sucrose, sorbitol and amino acids when added individually or combined were also discussed. The denaturation rate as reflected in inactivation of myofibrillar protein Ca-ATPase was followed the first order reaction. The $K_D$ values at $25^{\circ}C,\;30^{\circ}C,\;and\;35^{\circ}C$ were $19.52{\times}10^{-5},\;112.25{\times}10^{-5},\;and\;247.20{\times}10^{-5}$, respectively. The activation energy of the reaction at $30^{\circ}C$ was 43 kcal/mole. The protective effects of sucrose, sorbitol, glycine, alanine and Na-glutamate were increased with the concentration but the effects of sorbitol and Na-glutamate decreased beyond 1.0 mole. Basic amino acids such as arginine and lysine did not revealed any protective effect on the thermal denaturation. In case of mixed addition, the effects of Na-glutamate to glycine, sorbitol to glycine, and sorbitol to sucrose or sorbitol to Na-glutamate were enhanced 1.2 to 7.0 times as much as that of control (ratio of mixing; 1:1, range of concentration; 0.5 to 1.25 mole). Under the frozen condition at $-20^{\circ}C$, two mixtures such as Na-glutamate to glycine and sorbitol to sucrose apparently revealed the protective effects.

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Effects of Various Environmental Stresses on the Peroxidase Activities from Rice Seedlings (여러 가지 환경스트레스가 벼 유묘 퍼옥시다제 활성에 미치는 영향)

  • 이정애;신현웅;이미영
    • Korean Journal of Environmental Biology
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    • v.18 no.3
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    • pp.331-336
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    • 2000
  • In order to examine the effect of SO$_2$, which is the major component of acid rain, on the peroxidase activity, rice (Oryza sativa) seedlings were grown on the media containing various concentrations of Na$_2$SO$_3$. Na$_2$SO$_3$ concentrations needed for the 50% inhibition of rice seed germination were determined to be 300$\mu\textrm{g}$/ml at pH 7, 8$\mu\textrm{g}$/ml at pH 5 and 2$\mu\textrm{g}$/ml at pH 3. Notably, about 8 fold and 4 fold increase of the specific activity of the enzyme were observed with the seedlings treated with 8$\mu\textrm{g}$/ml Na$_2$SO$_3$ at pH 5 and 2$\mu\textrm{g}$/ml Na$_2$SO$_3$ at pH 3, respectively. The effects of Cd and Pb on the peroxidase activities and chlorophyll contents were also examined. About 3.9 fold higher peroxidase activities were found at 0.03mM Cd, and the chlorophyll contents were reduced to 63% of the control seedlings. At 0.04mM Pb, 2.5 fold higher enzyme activities were found and the chlorophyll contents were reduced to 72%. Therefore, the increases of rice peroxidase activities might be involved in the defense mechanism of the cell against various environmental stresses such as Na$_2$SO$_3$, Cd and Pb. The effects of Cu and Fe, which are the inducers of oxidative stresses by the generations of reactive oxygen species, on the peroxidase activities were also investigated. About 57% and 65% activity losses were found at 0.5mM CuSO$_4$ and 0.5mM FeSO$_4$, respectively, and radical scavenger ethanol almost completely protected both inactivations. However, dimethyl sulfoxide, mannitol, thiourea and histidine showed different radical scavenging effects one another against Cu and Fe inactivation.

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