Ornithine transcarbamylase deficiency in a boy with normal development.
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Amino Acid Metabolism, Inborn Errors↗
SEARCH · PubMed Health
Results for “Yang Deficiency”
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Protein phosphatase 2A interacts with and directly dephosphorylates RelA.
Nuclear factor-kappa B (NF-kappa B)/Rel transcription factors are key regulators of a variety of genes involved in inflammatory responses, growth, differentiation, apoptosis, and development. There are increasing lines of evidence that NF-kappa B/Rel activity is controlled to a great extent by its phosphorylation state. In this study, we demonstrated that RelA physically associated with protein phosphatase 2A (PP2A) subunit A (PR65). Both the N- and C-terminal regions of RelA were responsible for the PP2A binding. RelA co-immunoprecipitated with PP2A in melanocytes in the absence of stimulation, indicating that RelA forms a signaling complex with PP2A in the cells. RelA was dephosphorylated by a purified PP2A core enzyme, a heterodimer formed by the catalytic subunit of PP2A (PP2Ac) and PR65, in a concentration-dependent manner. Okadaic acid, an inhibitor of PP2A at lower concentration, increased the basal phosphorylation of RelA in melanocytes and blocked the dephosphorylation of RelA after interleukin-1 stimulation. Interestingly, PP2A immunoprecipitated from melanocytes was able to dephosphorylate RelA, whereas PP2A immunoprecipitated from melanoma cell lines exhibited decreased capacity to dephosphorylate RelA in vitro. Moreover, in melanoma cells in which I kappa B kinase activity was inhibited by sulindac to a similar level as in melanocytes, the phosphorylation state of RelA and the relative NF-kappa B activity were still higher than those in normal melanocytes. These data suggest that the constitutive activation of RelA in melanoma cells (Yang, J., and Richmond, A. (2001) Cancer Res. 61, 4901-4909) could be due, at least in part, to the deficiency of PP2A, which exhibits decreased dephosphorylation of NF-kappa B/RelA.
Humans↗
Acquired inhibitor of factor V: first report in China and literature review.
We reported a 51-year-old man who developed a severe haematuria with a prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT). Laboratory evaluation revealed the presence of specific factor V inhibitors. No underlying diseases and associated conditions have been identified. The patient improved after immunosuppressive therapy. However, the FV level remained low, indicating incomplete inhibitor eradication. The clinical course of our patient was consistent with the observations by others that FV inhibitor can be persistent for months or years.
China↗
Effects of Chinese medicinal herbs on hemorheology in diabetics.
There was a statistically significant increase in whole blood viscosity, plasma viscosity, erythrocyte filterability index and hematocrit in diabetics with "Qi Yin deficiency and blood stasis" syndrome. After treatment with "Yi Qi Yang Yin Hou Xue" prescription there was a statistically significant improvement in hemorheological properties and a slight decrease in fasting blood glucose.
Adult↗
[Glucose-6-phosphate dehydrogenase variants and associated clinical features].
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Glucosephosphate Dehydrogenase↗
Development of ulcerative colitis during the course of rheumatoid arthritis: Association with selective IgA deficiency.
A 56-year-old woman with a 29-year history of rheumatoid arthritis (RA) was admitted to the hospital, complaining of high fever, abdominal pain and severe bloody diarrhea. Colonoscopy revealed friable and edematous mucosa with spontaneous bleeding, diffuse erosions and ulcers extending from the rectum to the distal transverse colon. Histopathological findings of rectal biopsies were compatible with ulcerative colitis (UC). Being diagnosed as having severe active left-side UC, she was successfully treated with intravenous methylprednisolone followed by prednisolone and leukocytapheresis. Laboratory tests revealed low serum and saliva IgA levels, which might play a role in the development of UC. To our knowledge, this is the first case of UC occurring during the course of RA, accompanied by selective IgA deficiency.
Anti-Inflammatory Agents↗
[Effect of liuweidihuang decoction on the changes in metal elements inside the internal organs of "yin-deficiency" mice models].
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Animals↗
The role of micronutrient deficiency in carcinogenesis.
Nutritional deficiencies are suspected to be contributing factors to several types of human cancers. Studies with laboratory animals have demonstrated that deficiencies in certain nutrients can enhance chemically induced carcinogenesis. In this review, we discuss several possible mechanisms for the involvement of nutritional deficiencies in carcinogenic processes, and note that different severities of deficiency may have varied effects on these processes. The relationship between results from studies with animals and the genesis of human cancer is discussed, and the application of the concept of nutrient density in relating experimental animal diets to human dietary conditions is emphasized. We also discuss in detail several recent studies that potentially may have a great impact on the prevention of human cancer. These include (1) the possible involvement of micronutrient deficiencies in carcinogenesis of the esophagus; (2) the effects of choline/methionine deprivation and calcium supplementation on liver carcinogenesis; and (3) the roles of low-calcium and high-fat intake on development of colon cancer. The possible mechanistic link between teratogenesis and carcinogenic processes is noted.
Animals↗
High-iron diet: foe or feat in ulcerative colitis and ulcerative colitis-associated carcinogenesis.
Anemia associated with long-standing chronic inflammation and iron deficiency, and the increased risk for the development of dysplasia and carcinoma, are two of the most common complications in patients with ulcerative colitis (UC). Because of iron and nutrition deficiency, UC patients are encouraged to consume a high-protein and high-iron diet. The crucial clinical question is the effect of a high-iron diet on inflammation activity and inflammation-driven carcinogenesis. Is a high-iron diet a foe or a feat in UC and UC-associated carcinogenesis? This review updates the progress and information on (1) iron nutrition and iron-deficiency anemia in patients with UC, (2) experimental evidence of the exacerbating effect of a high-iron diet on UC and its associated carcinogenesis and the difference between a high-iron diet and parental iron supplementation, (3) the clinical efficacy of, and concerns about, oral and intravenous iron supplements in patients with inflammatory bowel disease and iron deficiency anemia, and (4) the clinical implications of long-term iron supplements and management of UC. These experimental findings from animal models provide evidence to warrant further consideration and clinical studies of iron nutrition, inflammation activity, and cancer development.
Administration, Oral↗
Speed-accuracy of saccades, vergence and combined eye movements in children with vertigo.
Vergence abnormalities could lead to inappropriate vestibulo-ocular reflex (VOR), causing vertigo and imbalance (Brandt 1999). Indeed, a recent study by Anoh-Tanon et al. (2000) reported the existence of a population of children with symptoms of vertigo in the absence of vestibular dysfunction but with abnormal vergence findings in orthoptic tests. The purpose of this study was to examine in such children the accuracy, duration and mean velocity of vergence and saccades; additionally, for a few subjects, the effect of orthoptic vergence training on these parameters was also investigated. LEDs were used to stimulate saccades, pure vergence along the median plane and combined saccade-vergence movements. Movements from both eyes were recorded with a photoelectric device (Bouis). The results show that children with vertigo perform saccades as normal subjects of comparable age. In contrast, vergence, particularly convergence, shows abnormalities: poor accuracy, long duration and low speed. During combined movements, the well known reciprocal interaction between the saccade and the vergence is present only for saccades combined with divergence; for saccades combined with convergence such interaction is abnormal: the saccade is slowed down by the convergence but the convergence is not accelerated by the saccade. Orthoptic training improves significantly the accuracy of all eye movements; such improvement was significant for all types of eye movements except for divergence (pure and combined). Furthermore, convergence remains abnormal and the lack of acceleration by the saccade persists. These specific convergence deficits could be of both subcortical and cortical origin. Orthoptic training improves the accuracy presumably via visual attentional mechanisms, but cannot completely override deficits related to subcortical deficiencies.
Adolescent↗
Relationships between factor VIII:Ag and factor VIII in recombinant and plasma-derived factor VIII concentrates.
A variety of plasma-derived (pd) and recombinant (r) factor VIII (FVIII) concentrates are used to prevent and treat bleeding in severe hemophilia A patients. A significant side effect of FVIII replacement is the development of FVIII neutralizing antibodies (inhibitors) in up to 30% of patients receiving FVIII concentrates. The FVIII protein content (FVIII:Ag) per unit of FVIII:C in FVIII concentrates, and how effectively the FVIII:Ag in FVIII concentrates binds to von Willebrand factor (VWF) may provide information relevant for the survival of FVIII:C in vivo and for estimating the risk for inhibitor development. The FVIII:Ag content of nine r-FVIII and nine pd-FVIII concentrates were quantified in this study using two enzyme-linked immunosorbent assay (ELISA) platforms. The two ELISA platforms were based on the use of a monoclonal anti-(FVIII light chain)-IgG and polyclonal anti-FVIII antibodies as capture antibodies and both ELISAs were equally able to detect > or =0.005 IU of FVIII:Ag. Measured in international units, the r-FVIII concentrates contained significantly higher FVIII:Ag per unit of FVIII:C than the pd-FVIII concentrates. The VWF-binding profiles of the r-FVIII and pd-FVIII concentrates were also determined by gel filtration chromatography. Unlike the plasma-derived products, the r-FVIII concentrates invariably contained a fraction of FVIII:Ag molecules (approximately 20%) which was unable to associate with VWF. Given that VWF regulates both factor VIII proteolysis and survival of FVIII:Ag in vivo, the fraction of FVIII:Ag unable to bind to VWF may have a reduced survival and be more susceptible to proteolytic degradation in vivo. The extent to which the fractions of FVIII:Ag in concentrates able and unable to bind to VWF contribute to inhibitor development in severe FVIII-deficient patients is unknown.
Blotting, Western↗
[Effect of HCO3- on root growth and nutrient absorption of different rice genotypes].
Solution culture experiments with Zn-inefficient cultivar (IR26) and the Zn-efficient cultivar (IR8192-31-2) were conducted to study the effect of HCO3- on the root growth and nutrient absorption of different rice cultivars. The results showed that HCO3- strongly inhibited the root growth of Zn-inefficient cultivar especially at low Zn concentration. In contrast, that of Zn-efficient cultivar was slightly stimulated by HCO3- at low Zn concentration. HCO3- not only inhibited Zn absorption of Zn-inefficient cultivar, but also inhibited its absorption of Fe, Mn, Cu, implying that there was no specific inhibition of HCO3- on Zn absorption. These results demonstrated that the inhibition of root growth by HCO3- was likely to be the initial action of HCO3- in inducing Zn deficiency in lowland rice. With treatment of bicarbonate, Zn concentrations in upper and lower leaves of the Zn-efficient cultivar and their ratios were higher than those of the Zn-inefficient cultivar. The results showed that the Zn-efficient cultivar could transport more zinc from lower leaves to upper leaves, which might be-one of mechanisms that the Zn-efficient cultivar adapted to zinc deficiency in calcareous soil.
Absorption↗
Effect of dietary vitamin E on lipid synthesis by rat lung in vitro.
The effect of dietary vitamin E on lipid synthesis from U-14 C-D-glucose and 1-14C-acetate was studied in rat lungs in vitro. One-month-old Sprague-Dawley male rats were fed either a basal vitamin E-deficient diet or one supplemented with 45 ppm vitamin E ad libitum for two months. Glucose oxidation to CO2 by lungs was significantly (p less than 0.05) decreased by the exclusion of vitamin E from the diet. Oxidation of acetate to CO2 was not affected by the presence of vitamin E in the diet. The extent of labeled carbons from both glucose and acetate incorporated into total lipids was significantly lower in the lungs of vitamin E-deficient animals than in those of the supplemented group. However, the relative amounts of phospholipids, neutral lipids are free fatty acids in total lipids, and of glyceryl moiety and fatty acids in total lipids and in phospholipid fraction were not significantly altered by the status of dietary vitamin E. The results suggest a general depression of lipid synthesis in the lungs of vitamin E-deficient rats.
Acetates↗
Prevalence of thiamin and riboflavin deficiency among the elderly in Taiwan.
The purpose of this study was to perform biochemical assessments of the nutritional status of thiamin and riboflavin in the 2379 elderly persons (1213 males, 1166 females) participating in the Elderly Nutrition and Health Survey in Taiwan (1999-2000) (Elderly NAHSIT). Through analysis of the data we aimed to investigate possible factors related to the prevalence of vitamin deficiency. Activity coefficients of erythrocyte transketolase and glutathione reductase (ETKAC and EGRAC) were the chosen biochemical indicators for thiamin and riboflavin status. The results showed that 14.7% of men and 11.9% of women were marginally thiamin deficient, and 16.5% of men and 14% of women were thiamin deficient. The prevalence rates of marginal riboflavin deficiency were 25.7% for males and 20.1% for females, and the deficiency rates were 6.6% for elderly males and 4.1% for elderly females. Although the average dietary thiamin and riboflavin intakes reached 146%-164% of Taiwan RDAs, the percentage of senior citizens whose thiamin or riboflavin dietary intakes were less than EARs (equivalent to 83.3% of RDAs) was around 30% for males and 40% for females. Some contributing factors to the significant prevalence of thiamin and riboflavin deficiencies are discussed in this article.
Aged↗
[Association of vitamin D receptor gene Apa I polymorphism with vitamin D deficiency rickets].
OBJECTIVE: To study the association between vitamin D receptor (VDR) gene Apa I polymorphism and vitamin D deficiency rickets in children of Shanxi Han ethnic group, and to explore the significance of individual hereditary factors in the development of rickets. METHODS: This was a case control study. The grouping criteria were serum 25(OH)D(3) level, blood bone alkaline phosphatase and clinical symptom, respectively. The laboratory test methods were enzyme linked immunoassay and radioimmunoassay. PCR-RFLP technology was applied to examine VDR gene Apa I site polymorphism and Hardy-Weinberg hereditary balance test was used to examine the coincidence of gene distribution. RESULTS: Frequencies of AA, Aa and aa genotypes were 5.0%, 52.5% and 42.5% in the rickets group and 4.4%, 55.9% and 39.7% in the control group, respectively. Frequencies of A and a genotypes were 31.3% and 68.7% in the rickets group and 32.3% and 67.7% in the control group, respectively. There was not significant difference in the frequency distribution of VDR genotype and allelic genes between two groups (chi(2) = 0.089, P > 0.05; chi(2) = 0.028, P > 0.05). There was significant difference in the serum 25(OH)D(3) between two groups (t = -8.919, P < 0.01). CONCLUSION: The distribution of VDR gene Apa I polymorphism in children of Han ethnic group is balanced relatively. The Frequency of a allelic genes is 67.7% which is therefore the superior gene. VDR gene polymorphism might not be important in an individual's susceptibility to development of vitamin D deficiency.
Calcifediol↗
Hemolytic anemia after methylene blue therapy for aniline-induced methemoglobinemia.
Methylene blue is utilized as the main treatment of methemoglobinemia conventionally, but it may be ineffective in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. We report a G6PD-deficient patient who suffered from aniline-induced methemoglobinemia with initial good response Heinz body but hemolytic anemia appeared later 3 d after methylene blue therapy. G6PD deficiency was identified. He recovered uneventfully with hydration, packed blood transfusion and adjuvant luvela-N(dl-alpha-tocopheryl nicotinate) medication. Caution should be taken in using methylene blue as antidote of acute methemoglobinemia, especially when a history of G6PD deficiency is obscure.
Adult↗
[Genetic analysis of hereditary factor VII deficiency from a Chinese pedigree].
OBJECTIVE: To identify the mutation in coagulation factor VII gene from a Chinese patient with hereditary coagulation factor VII deficiency. METHODS: The genomic DNA fragments of FVII gene from a propositus and normal subjects were amplified using polymerase chain reaction (PCR), and analyzed with direct sequencing of PCR products. The PCR amplified genomic DNA fragments of FVII gene from the propositus and her family members were analyzed using restriction enzyme Hgic I. RESULTS: The FVII gene sequences of normal subjects were identical to the data published, while a missense mutation (TGT-->GGT) was found at codon 329 in FVII gene of the propositus. The heterozygous condition for the mutation was revealed in her three family members. CONCLUSION: We have found a novel mutation (TGT-->GGT) at codon 329 in FVII gene of a patient with hereditary FVII deficiency, which leads to a cystein residue replaced by a glysine. PCR combined with restriction enzyme Hgic I digestion would be a rapid diagnostic method for this mutation.
Factor VII↗
IL-10 and TGF-beta gene transfer to rodent islets: effect on xenogeneic islet graft survival in naive and B-cell-deficient mice.
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Animals↗