• Title/Summary/Keyword: Protein S deficiency

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Hereditary protein S deficiency presenting acute pulmonary embolism

  • Kim, Jiwan;Kim, Sung Hea;Jung, Sang Man;Park, Sooyoun;Yu, HyungMin;An, Sanghee;Kang, Seonghui;Kim, Hyun-Joong
    • Journal of Yeungnam Medical Science
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    • v.31 no.1
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    • pp.52-55
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    • 2014
  • Protein S deficiency is one of the several risk factors for thrombophilia and can cause blood clotting disorders such as deep vein thrombosis and pulmonary embolism. A 54-year-old man was admitted with the complaint of dyspnea and was diagnosed with pulmonary embolism. The patient had very low level of free protein S, total protein S antigen, and protein S activity (type I protein S deficiency). In history taking, we found that his mother, 78 year old, had a history of same disease 10 years ago, and confirmed the pronounced low level of protein S. The patient's son also had very low level of protein S, however there had not been any history of pulmonary embolism yet. This case study suggests that asymptomatic persons with a family history of protein S deficiency and pulmonary embolism should be checked regularly for early detection of the disease, as protein S deficiency can be suspected.

A Study of Protein S Deficiency in Antiphospholipid Syndrome (항인지질증후군에서 S단백질 결핍증에 대한 연구)

  • Nam, Yoon-Sung;Kim, Nam-Keun;Kang, Myung-Seo;Oh, Do-Yeon;Cha, Kwang-Yul
    • Clinical and Experimental Reproductive Medicine
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    • v.28 no.2
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    • pp.105-110
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    • 2001
  • Objective: To evaluate the abnormality of protein S in patients with recurrent spontaneous abortion due to antiphospholipid syndrome. Material and Method: Antigen and activity of protein S were analyzed by enzyme immunoassay and clotting method, respectively. Results: Of 18 patients with antiphospholipid syndrome, 4 patients were found to have no abnormality of protein S. There were 14 cases of protein S abnormality. Among them, there were 8 cases of type 1, 1 case of type 2, and 5 cases of type 3 protein S deficiency. Conclusion: So in the workup of patients with recurrent spontaneous abortion due to antiphospholipid syndrome, the evaluation for protein S is required.

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Effects of Sulfur Fertilizer on the Expression of 11S and 7S Seed Storage Proteins of Soybean

  • El-Shemy Hany A.;Nguyen Nguyen Tran;Ahmed Sherif H.;Fujita Kounosuke
    • Journal of Plant Biotechnology
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    • v.8 no.1
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    • pp.1-8
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    • 2006
  • The differential response of soybean cultivars with or without sulfur (S) application was observed under fold conditions. Plant biomass decreased by sulfur deficiency but the reduction was less in Bragg variety about 26 % relative to the control than other ones over 45%, probably due to less reduction in loaves and pods. The photosynthetic rate of Bragg cultivar was also unaffected by the absence of sulfur application while it depressed in other lines. Soybean cultivars were compared in terms of storage protein, protein quality and biomass production by application of sulfur nutrition. The storage protein concentration tended to decrease without sulfur application in all the cultivars, however the differential response of protein quality only by 11S/7S ratio to sulfur nutrition status was observed: For instance, Bragg cultivar had higher biomass and protein production but protein quality decreased at sulfur deficiency. On the other hand, biomass and protein production in other cultivars remained louver at sulfur deficiency but protein quality differed genetically in spite of sulfur nutrition status. These results suggest that the response of soybean to sulfur nutrition is controlled by genotypic difference and sulfur supply status.

ANKS1A-Deficiency Aberrantly Increases the Entry of the Protein Transport Machinery into the Ependymal Cilia

  • Haeryung Lee;Jiyeon Lee;Miram Shin;Soochul Park
    • Molecules and Cells
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    • v.46 no.12
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    • pp.757-763
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    • 2023
  • In this study, we examine whether a change in the protein levels for FOP in Ankyrin repeat and SAM domain-containing protein 1A (ANKS1A)-deficient ependymal cells affects the intraflagellar transport (IFT) protein transport system in the multicilia. Three distinct abnormalities are observed in the multicilia of ANKS1A-deficient ependymal cells. First, there were a greater number of IFT88-positive trains along the cilia from ANKS1A deficiency. The results are similar to each isolated cilium as well. Second, each isolated cilium contains a significant increase in the number of extracellular vesicles (ECVs) due to the lack of ANKS1A. Third, Van Gogh-like 2 (Vangl2), a ciliary membrane protein, is abundantly detected along the cilia and in the ECVs attached to them for ANKS1A-deficient cells. We also use primary ependymal culture systems to obtain the ECVs released from the multicilia. Consequently, we find that ECVs from ANKS1A-deficient cells contain more IFT machinery and Vangl2. These results indicate that ANKS1A deficiency increases the entry of the protein transport machinery into the multicilia and as a result of these abnormal protein transports, excessive ECVs form along the cilia. We conclude that ependymal cells make use of the ECV-based disposal system in order to eliminate excessively transported proteins from basal bodies.

Sulphur Supply Level Effects on the Assimilation of Nitrate and Sulphate into Amino Acids and Protein in Forage Rape (Brassica napus L.)

  • Lee, Bok-Rye;Kim, Tae-Hwan
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.32 no.4
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    • pp.343-352
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    • 2012
  • Sulphur deficiency has become widespread over the past several decades in most of the agricultural area. Oilseed rape (Brassica napus L.) is a very sensitive to S limitation which is becoming reduction of quality and productivity of forage. Few studies have assessed the sulphur mobilization in the source-sink relationship, very little is known about the regulatory mechanism in interaction between sulphur and nitrogen during the short-term sulphur deficiency. In this study, therefore, amount of sulphur and nitrogen incorporated into amino acids and proteins as affected by different S-supplied level (Control: 1 mM ${SO_4}^{2-}$, S-deficiency: 0.1 mM ${SO_4}^{2-}$, and S-deprivation: 0 mM ${SO_4}^{2-}$) were examined. The amount of sulphur in sulphate (S-sulphate) was significantly decreased by 25.8% in S-deprivation condition, compare to control, but not nitrogen in nitrate (N-nitrate). The markedly increase of sulphur and nitrogen incorporated amino acids (S-amino acids and N-amino acids) was observed in both S-deficiency and S-deprivation treatments. The amount of nitrogen incorporated proteins (N-protein) was strongly decreased as sulphur availability while the amount of sulphur incorporated into proteins (S-protein) was not affected. A highly significant ($p{\leq}0.001$) relationship between S-sulphate and S-amino acid was observed whereas the increase of N-amino acids is closely associated with decrease of N-proteins. These data indicate that increase of sulphur and nitrogen incorporated into amino acids was from different nitrogen and sulphur metabolites, respectively

A Case of Basilar Arterial Thrombosis in Ovarian Hyperstimulation Syndrome (난소 과자극증후군과 동반된 뇌바닥동맥 혈전증)

  • Park, Joon-Cheol;Lim, Su-Yeon;Bae, Jin-Gon;Kim, Jong-In;Rhee, Jeong-Ho
    • Clinical and Experimental Reproductive Medicine
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    • v.35 no.1
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    • pp.83-88
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    • 2008
  • Thromboembolic disease associated with assisted reproductive techniques is considered to be extremely rare but most serious complication. The reasons for this are thought to hypercoagulable state characteristic of OHSS due to high serum levels of estrogen, hemoconcentration and reduced circulating blood volume, but is still unclear. The risk is increased those with rare hypercoagulable conditions such as antiphospholipid antibody syndrome, protein C deficiency, protein S deficiency, antithrombin III deficiency, and those with a personal or family history of thromboembolic disease. The majority of thrombosis reported were venous site but arterial thrombosis mostly intracerebral was reported 5 cases in Korea so far. We present a case of basilar a. thrombosis at 11 days after hCG injection. The patient developed the right hemiparesis, and recovered after intraarterial thrombolysis and transluminal angioplasty. Protein S activity was decreased and vWF antigen was increased. Decreased protein S activity was also found in previous reported 4 cases, so we suggest screening test for protein S in OHSS patients.

A Case of Antiphospholipid Syndrome Associated with Protein C Deficiency (C단백질 부족증과 관련된 항인지질 증후군 1례)

  • Nam, Y.S.;Han, S.Y.;Choi, D.H.;Yoon, T.K.;Cha, K.Y.
    • Clinical and Experimental Reproductive Medicine
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    • v.26 no.1
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    • pp.123-126
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    • 1999
  • A successful outcome of pregnancy requires an efficient uteroplacental vascular system. Since this system may be compromised by disorders of haemostasis associated with a prothrombotic state, maternal thrombophilia might be a risk factor for fetal loss. Hereditary deficiencies of the naturally occuring anticoagulants are well recognized conditions predisposing to recurrent venous thromboembolism. Since thrombotic phenomena have been implied as a cause of abortion and stillbirth, these deficiencies might increase the risk of fetal demise. We have experienced a case of antiphospholipid syndrome associated with protein C deficiency in patient with recurrent spontaneous abortion. So we report this case with a brief review of literatures.

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The Effects of Vitamin B6 Deficiency on Stored Fuel Utilization During 3 days Fasting or 6 days underfeeding in Rats

  • Cho, Youn-Ok
    • Journal of Nutrition and Health
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    • v.27 no.9
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    • pp.923-929
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    • 1994
  • The effects of vitamin B6 deficiency on energy utilization during fasting or underfeeding were studied in rats. Fifteen rats were fed a vitamin B6 deficient(-B6) diet and another 15 rats wee fed a control (+B6) diet. These rats were fed for 5 weeks with respective diet, and then subdivided into 3 groups : non-fasted group, fasted group, underfed group. Rats of the fasted group were fasted for 3 days and those of underfed group for 6 days. At the respective time (non-fast, 3 day-fast, 6 day-underfeed at 5 weeks), animals were sacrificed. Feed efficiency ratio of - B6 rats was significantly lower than that of +B6 rats. In - B6 rats, the liver and kidney weights were significantly heavier than those of +B6 rats but spleen and heart weights were not. In non-fasted group, liver protein and triglyceride level of - B6 rats were significantly higher than that of +B6 rats. After - B6 rats were fasted for 3 days, plasma free fatty acid level was significantly lower but liver glycogen level was higher than that of +B6 rats and muscle protein level of +B6 was decreased while that of - B6 was not changed. Vitamin B6 deficiency had little effect on the energy utilization with 6 days underfeeding. These results suggest that vitamin B6 deficiency may impair the utilization of stored fuel during fasting.

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Evaluation of calcium, magnesium, vitamin D and some biomarker parameters levels in children with favsim disease in the Basrah Governorate-Iraq

  • Ashwaq A. Shenta;Khansaa S. Saud;Ali A. A. Al-Shawi;Mustafa F. Hameed
    • Journal of Applied Biological Chemistry
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    • v.65 no.4
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    • pp.329-335
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    • 2022
  • Essential minerals are important for human health because they support biochemical reactions in metabolism and may play a role in the development of glucose-6-phosphate dehydrogenase deficiency (G6PD). We investigated the relationship between calcium, magnesium, urea, creatinine, total protein, glucose and vitamin D levels in G6PD deficiency in this study. The control group consisted of 40 people (23 females and 17 males) and the patient group consisted of 50 people (20 females and 30 males), all of whom were between the ages of (1-12 years). The findings revealed that the calcium level in patients, depending on sex factor, has a highly significant increase (p <0.0001) when compared to the control group, especially in children who are females rather than males who are affected by G6PD deficiency. In addition, the level of magnesium was found to be significantly different (p <0.0001) in children male patients when compared to the control group. On the other side, the level of total protein was found to be significantly high in children patients (p <0.01) when comparing with control group, and the levels of urea, creatinine and glucose were found to be highly significant increase (p <0.001) in patients when comparing to healthy groups, vitamin D levels were significantly lower (p <0.0001) with G6PD deficiency comparing to control group. In conclusion, the low and high significant associations between vitamin D, calcium, magnesium, urea, creatinine, and glucose indicate that more research is needed to better understand their roles in G6PD development.