A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.
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Actinin↗
SEARCH · PubMed Health
Results for “Yang Deficiency”
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Mapping of the 21-hydroxylase deficiency gene within the HLA linkage group.
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Adrenocortical Hyperfunction↗
[Clinical study on relation between spleen-qi deficiency syndrome and the pancreatic exocrine function].
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Adult↗
On the efficient path integral evaluation of thermal rate constants within the quantum instanton approximation.
We present an efficient path integral approach for evaluating thermal rate constants within the quantum instanton (QI) approximation that was recently introduced to overcome the quantitative deficiencies of the earlier semiclassical instanton approach [Miller, Zhao, Ceotto, and Yang, J. Chem. Phys. 119, 1329 (2003)]. Since the QI rate constant is determined solely by properties of the (quantum) Boltzmann operator (specifically, by the zero time properties of the flux-flux and delta-delta correlation functions), it can be evaluated by well-established techniques of imaginary time path integrals even for quite complex chemical reactions. Here we present a series of statistical estimators for relevant quantities which can be evaluated straightforwardly with any nonlinear reaction coordinates and general Hamiltonians in Cartesian space. To facilitate the search for the optimal dividing surfaces required by the QI approximation, we introduce a two-dimensional quantum free energy surface associated with the delta-delta correlation function and describe how an adaptive umbrella sampling can be used effectively to construct such a free energy surface. The overall computational procedure is illustrated by the application to a hydrogen exchange reaction in gas phase, which shows excellent agreement of the QI rates with those obtained from quantum scattering calculations.
Journal Article↗
[Evaluation of the effects of intermittent iron supplement on iron-deficiency anemia in children].
A three-month iron supplement trial was conducted in 238 preschool children, who were divided randomly into three groups supplemented with oral administration of iron preparation at the same dose everyday, every other two days, and each week, respectively, to avoid low-absorption and side-effects of oral iron preparation and to evaluate its preventive and treatment effects and side-effects. Results showed individual iron-supplement by once every other two days or each week was efficient as same as by once everyday in improving anemia and increasing serum ferritin level. It can also reduce transient iron overload and gastrointestinal side-effects caused by daily iron supplement.
Anemia, Iron-Deficiency↗
[Experimental studies of Chinese taihe chicken on effects of "Qi" reinforcing and "Yin" nourishing].
The "Qi" deficiency and "Yin" deficiency rats were fed with Chinese Taihe Chicken or common Chicken. The results showed: Chinese Taihe Chicken and common Chicken could all improve in part the "Qi" deficiency of rats caused by forced swimming, furthermore, the effect of Chinese Taihe Chicken was better than that of common Chicken. Chinese Taihe Chicken could obviously reduce the activity of adenosine triphosphatase of kidney tissue of "Yin" deficiency rats caused by injecting thyroxine. It suggested that Chinese Taihe Chicken could nourish the "Yin".
Adenosine Triphosphate↗
IgA deficiency with membranous glomerulonephritis: a case report and review.
Selective immunoglobulin A (IgA) deficiency may result in a predisposition to recurrent sinopulmonary infection and allergic diseases. IgA deficiency may also play a role in the development of autoimmune disorders. Selective IgA deficiency associated with glomerulonephritis was rare, while the clinical presentation in IgA deficiency-associated glomerulonephritis was variable. We report an 83 year-old male with selective IgA deficiency associated with membranous glomerulonephritis. He presented with nephrotic syndrome. Percutaneous renal needle biopsy showed diffuse global thickening and rigidity of glomerular capillary walls, mildly diffuse segmental expansion of mesangial matrix, focal and cortical scar with segmental obsolescence of glomeruli. Heavy IgG and moderate C3 deposits were found on immunofluorescence. We also review the previous cases of IgA deficiency with glomerulonephritis. Several clues were rendered to establish the association between IgA deficiency and membranous glomerulonephritis.
Aged↗
Acupuncture treatment of syncope based on differentiation of signs and symptoms.
1. The three typical cases reported above were syncopic patients of different types. Case 1 belonged to yin-depletion syndrome, case 2 pertained to yang-depletion syndrome, and case 3 Jue syndrome due to disturbance between qi and the blood induced by deficiency of qi and accumulation of phlegm. All of the three cases were satisfactorily cured with acupuncture and moxibustion though they did not respond to western medicines. 2. The rationale of acupuncture treatment for syncope includes: 1) Regulating yin and yang: For yin-depletion syndrome, reinforcing method is mainly adopted for nourishing water to promote reproduction of the body fluids and replenishing yin to restore yang; in case of yang-depletion syndrome, moxibustion and needle-warming methods are mainly used for recuperating the depleted yang to rescue the patient from collapse and for invigorating yang to restore yin. 2) Resuscitating the patient by regulating qi and the blood and dredging the channels to activate the circulation. After a successful resuscitation, the patient should be radically treated with appropriate herbal medicines so as to consolidate the therapeutic efficacy. 3. An emergency treatment for syncopal patients with acupuncture and moxibustion must be based on a conscientious differentiation of the signs and symptoms. The treatment should strictly follow the therapeutic principles: reinforce for the deficiency, reduce for the excess, cool the heat and warm the cold.
Acupuncture Therapy↗
Cytoprotective role of heme oxygenase (HO)-1 in human kidney with various renal diseases.
BACKGROUND: We previously reported that glomerular changes in the renal specimen of a human case with heme oxygenase-1 (HO-1) deficiency were mild, but tubulointerstitial injury advanced progressively. This study examined the patterns of HO-1 production in the kidney in various renal diseases. Furthermore, the critical cytoprotective roles of HO-1 were evaluated in the kidney by comparing HO-1 production and expressions of carboxymethyllysine (CML) and pentosidine, both of which are markers of oxidative stress. METHODS: Renal biopsy or autopsy materials were obtained from a total of 74 patients. Degrees of hematuria and proteinuria and the levels of urinary N-acetyl-beta-D-glucosaminidase (NAG), beta2-microglobulin (beta2m), and creatinine were evaluated. Immunohistochemical studies for HO-1, CML, and pentosidine expressions were performed with their specific antiserum. RESULTS: HO-1 staining was observed within tubular epithelial cells in all of the renal diseases, but was not detected within intrinsic glomerular cells. HO-1 staining tended to be more intense within distal tubuli than in proximal tubuli. Within distal tubuli, there was no significant correlation between intensity of HO-1 staining and degree of hematuria or presence of proteinuria. Within proximal tubuli, HO-1 staining tended to be more intense with greater degrees of hematuria, presence of proteinuria, and moderate tubulointerstitial damage. Intense staining of CML and pentosidine was observed within renal tubular epithelial cells only in HO-1-deficient patients. CONCLUSIONS: HO-1 plays important roles in protecting renal tubuli from oxidative injuries, as these cells are constantly exposed to various oxidative stresses. It is suggested that renal tubular epithelia are more susceptible to oxidative stress due to the lack of this critical enzyme in HO-1 deficiency.
Adolescent↗
Targeted disruption of the murine dihydrolipoamide dehydrogenase gene (Dld) results in perigastrulation lethality.
The Dld gene product, known as dihydrolipoamide dehydrogenase or the E3 component, catalyzes the oxidation of dihydrolipoyl moieties of four mitochondrial multienzyme complexes: pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, branched-chain alpha-ketoacid dehydrogenase, and the glycine cleavage system. Deficiency of E3 activity in humans results in various degrees of neurological dysfunction and organic acidosis caused by accumulation of branched-chain amino acids and lactic acid. In this study, we have introduced a null mutation into the murine Dld gene (Dldtm1mjp). The heterozygous animals are shown to have approximately half of wild-type activity levels for E3 and all affected multienzyme complexes but are phenotypically normal. In contrast, the Dld-/- class dies prenatally with apparent developmental delay at 7.5 days postcoitum followed by resorption by 9.5 days postcoitum. The Dld-/- embryos cease to develop at a time shortly after implantation into the uterine wall when most of the embryos have begun to gastrulate. This null phenotype provides in vivo evidence for the requirement of a mitochondrial oxidative pathway during the perigastrulation period. Furthermore, the early prenatal lethal condition of the complete deficiency state may explain the low incidence of detectable cases of E3 deficiency in humans.
Animals↗
Neuroprotection of Tat-GluR6-9c against neuronal death induced by kainate in rat hippocampus via nuclear and non-nuclear pathways.
Previous studies have suggested that glutamate receptor 6 (GluR6) subunit- and JNK-deficient mice can resist kainate-induced epileptic seizure and neuronal toxicity (Yang, D. D., Kuan, C.-Y., Whitmarsh, A. J., Rinoćn, M., Zheng, T. S., Davis, R. J., Rakic, P., and Flavell, R. A. (1997) Nature 389, 865-870; Mulle, C., Seiler, A., Perez-Otano, I., Dickinson-Anson, H., Castillo, P. E., Bureau, I., Maron, C., Gage, F. H., Mann, J. R., Bettler, B., and Heinemmann, S. F. (1998) Nature 392, 601-605). In this study, we show that kainate can enhance the assembly of the GluR6-PSD95-MLK3 module and facilitate the phosphorylation of JNK in rat hippocampal CA1 and CA3/dentate gyrus (DG) subfields. More important, a peptide containing the Tat protein transduction sequence (Tat-GluR6-9c) perturbed the assembly of the GluR6-PSD95-MLK3 signaling module and suppressed the activation of MLK3, MKK7, and JNK. As a result, the inhibition of JNK activation by Tat-GluR6-9c diminished the phosphorylation of the transcription factor c-Jun and down-regulated Fas ligand expression in hippocampal CA1 and CA3/DG regions. The inhibition of JNK activation by Tat-Glur6-9c attenuated Bax translocation, the release of cytochrome c, and the activation of caspase-3 in CA1 and CA3/DG subfields. Furthermore, kainate-induced neuronal loss in hippocampal CA1 and CA3 subregions was prevented by intracerebroventricular injection of Tat-Glur6 - 9c. Taken together, our findings strongly suggest that the GluR6-PSD95-MLK3 signaling module mediates activation of the nuclear and non-nuclear pathways of JNK, which is involved in brain injury induced by kainate. Tat-GluR6-9c, the peptide we constructed, gives new insight into seizure therapy.
Animals↗
Folate depletion and elevated plasma homocysteine promote oxidative stress in rat livers.
This study was designed to determine whether nutritional folate depletion exerts hepatic oxidative stress in relation to elevated plasma homocysteine. To mimic various extents of folate depletion status in vivo, male Wistar rats were fed an amino acid-defined diet containing either 8 (control), 2, 0.5, or 0 mg folic acid/kg diet. After a 4-wk feeding period, the plasma and hepatic folate concentrations of the rats decreased significantly with each decrement of dietary folate. Folate depletion did not significantly affect two major liver antioxidants: reduced glutathione and alpha-tocopherol. Conversely, folate depletion decreased Cu-Zn superoxide dismutase and glutathione peroxidase activities, but had no effect on catalase activity in liver homogenates. Lipid peroxidation products, as measured by thiobarbituric acid-reactive substances, were significantly higher in livers of folate-depleted rats than in those of the controls. This occurrence of hepatic oxidative stress in folate-depleted rats was confirmed by demonstrating an increased susceptibility of livers of folate-depleted rats to lipid peroxidation induced by additional H2O2 or Fe(2+) treatments compared with the controls. Decreasing dietary folate intake resulted in graded increases in plasma homocysteine concentrations of folate-depleted rats. Elevated plasma homocysteine and decreased plasma and hepatic folate concentrations in folate-depleted rats were all strongly and significantly correlated with increased liver lipid peroxidation (/r/ > or = 0.58, P < 0.0003). These data demonstrate that folate depletion and elevated plasma homocysteine promote oxidative stress in rat livers.
Animals↗
Antiferromagnetic ordering in superconducting and oxygen-deficient nonsuperconducting RBa2Cu3O7- delta compounds (R=Nd and Sm).
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Journal Article↗
An enhancer trap line associated with a D-class cyclin gene in Arabidopsis.
In yeast and animals, cyclins have been demonstrated to be important regulators of cell cycle progression. In recent years, a large number of A-, B-, and D-class cyclins have been isolated from a variety of plant species. One class of cyclins, the D-class cyclins, is important for progression through G1 phase of the cell cycle. In Arabidopsis, four D-class cyclins have been isolated and characterized (CYCLIN-D1;1, CYCLIN-D2;1, CYCLIN-D3;1, and CYCLIN-D4;1). In this report we describe the characterization of a fifth D-class cyclin gene, CYCLIN-D3;2 (CYCD3;2), from Arabidopsis. An enhancer trap line, line 5580, contains a T-DNA insertion in CYCD3;2. Enhancer trap line 5580 exhibits expression in young vegetative and floral primordia. In line 5580, T-DNA is inserted in the first exon of the CYCD3;2 gene; in homozygous 5580 plants CYCD3;2 RNA is not detectable. Even though CYCD3;2 gene function is eliminated, homozygous 5580 plants do not exhibit an obvious growth or developmental phenotype. Via in situ hybridization we demonstrate that CYCD3;2 RNA is expressed in developing vegetative and floral primordia. In addition, CYCD3;2 is also capable of rescuing a yeast strain that is deficient in G1 cyclin activity.
Amino Acid Sequence↗
Regression analysis of doubly censored failure time data with frailty.
In doubly censored failure time data, the survival time of interest is defined as the elapsed time between an initial event and a subsequent event, and the occurrences of both events cannot be observed exactly. Instead, only right- or interval-censored observations on the occurrence times are available. For the analysis of such data, a number of methods have been proposed under the assumption that the survival time of interest is independent of the occurrence time of the initial event. This article investigates a different situation where the independence may not be true with the focus on regression analysis of doubly censored data. Cox frailty models are applied to describe the effects of covariates and an EM algorithm is developed for estimation. Simulation studies are performed to investigate finite sample properties of the proposed method and an illustrative example from an acquired immune deficiency syndrome (AIDS) cohort study is provided.
Acquired Immunodeficiency Syndrome↗
Contrasting roles for STAT4 and STAT6 signal transduction pathways in murine renal ischemia-reperfusion injury.
Recent data support a modulatory role for CD4 T cells in experimental renal ischemia-reperfusion injury (IRI). CD4 T cells can functionally differentiate to either a Th1 (IFN-gamma producing) or the counterbalancing Th2 (IL-4) phenotype. The enzymes signal transducers and activators of transcription (STAT) 4 and STAT6 regulate Th1 or Th2 differentiation and cytokine production, respectively. We therefore hypothesized that mice that were STAT4 deficient would be protected from renal IRI and that STAT6-deficient mice would have a more severe course. Intracellular cytokine staining of splenocytes from STAT4-/- or STAT6-/- exhibited distinct IFN-gamma and IL-4 cytokine expression profiles. STAT6-/- had markedly worse renal function and tubular injury postischemia compared with wild type. STAT4-/- had only mildly improved function. Renal phagocyte infiltration and ICAM-1 upregulation were similar in STAT4-/-, STAT6-/-, and wild type. To evaluate if the mechanism of the marked worsening in the STAT6-/- mice could be due to IL-4 deficiency, IL-4-deficient mice were studied and had similar postischemic phenotype to STAT6-/- mice. These data demonstrate that the STAT6 pathway has a major protective role in renal IRI. IL-4 deficiency is a likely mechanism underlying the STAT6 effect. A "yin-yang" role for inflammation is emerging in renal IRI, similar to recent observations in atherosclerosis.
Animals↗
Gender- and age-dependent changes in kidney androgen protein mRNA expression in a knockout mouse model for nephrolithiasis.
Kidney androgen-regulated protein (Kap) is the most abundant protein in the mouse kidney, but its function is unknown. We previously observed a significant decrease in Kap mRNA expression in whole kidney tissue from male mice with adenine phosphoribosyltransferase (APRT) deficiency and 2,8-dihydroxyadenine (DHA) nephrolithiasis. The disease phenotype is more severe in male mice and is age-dependent. To identify the cellular basis for differential Kap expression, we used in situ hybridization (ISH) and reverse transcription-polymerase chain reaction ISH (RT-PCR ISH) to identify the cell types expressing this mRNA in paraffin-embedded kidney sections. In 1-month-old wild-type male mice, Kap was detected primarily in S3 proximal tubule segments, but expression was very low in female mice. In 1-month-old APRT-deficient male mice, Kap expression was decreased significantly and was undetectable in female mice. Kap mRNA was not detected in 3- or 6-month-old mice using our standard ISH protocol, but we observed intense cytoplasmic staining in S3 proximal tubules in wild-type male mice of these age groups using an improved RT-PCR ISH procedure. Our studies demonstrate age-, gender-, and APRT genotype-dependent changes in Kap mRNA expression in mouse kidney. Kap expression is under multihormonal control, and hormonal changes in DHA-induced nephrolithiasis may account for the decreased Kap expression in APRT-deficient mice.
Adenine Phosphoribosyltransferase↗
[A hemodynamics model describing cardiac deficiency of qi(vital energy)].
Cardiac deficiency of qi(vital energy) is one of the main syndromes in terms of TCM (Traditional Chinese Medicine). Based on our analysis of blood-tissue fluid circulation, we set up a hemodynamics model describing cardiac deficiency of qi. The model's theoretical results can reflect the manifestations of cardiac deficiency of qi, and are identical to those of clinical experimental discoveries, therefore it has substantiated our theory-cell's abnormal physiological function caused by undernourishment of tissue fluid is the reason of qi-deficiency.
Animals↗