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PubMed2000

[Study on molecular mechanism of ganyang shangkang syndrome in hypertension].

OBJECTIVE: To investigate the molecular mechanism of Ganyang Shangkang (Liver Yang ascending, GYSK) syndrome in hypertension. METHODS: The plasma norepinephrine (NE), epinephrine (E) contents in patients with GYSK syndrome or Ganshen Yinxu (Liver and Kidney Yin Deficiency, GSYX) syndrome who were suffered from hypertension, and normal controls were determined by high performance liquid chromatography-electrochemical detector (HPLC-ECD). The polymorphism of tyrosine hydroxylase (TH) gene in the three groups were analyzed by Southern Blot assay. The polymorphism of TH and MAOA, MAOB gene microsatellite in these groups were analyzed by polymerase chain reaction (PCR)-SSCP; meanwhile, the GYSK model by administration of single TCM preparation, Radix Aconiti preparate (RAP) in spontaneous hypertension rats (SHR). The adrenal gland medulla were examined for their TH expression at the protein level after ABC immuno histochemical staining with the TH monoclonal antibody (McAb). The adrenal TH gene mRNA expression was demonstrated by in situ hybridization with the synthesized TH oligonucleic acid probe. The results of immunohistochemistry and in situ hybridization were analyzed with the image analysis system (IAS). RESULTS: The plasma NE, E contents in patients with GYSK were more significantly increased than that in GSYX and normal controls. The TH gene amplified and the type A1 TH microsatellite D11S4046 was increased more remarkably than other groups. The TH mRNA protein expression in their adrenal tissue of the single TCM preparation RAP induced GYSK model in SHR were elevated. CONCLUSIONS: The GYSK syndrome of hypertension possesses the character as amplified TH gene and increased TH mRNA and protein. It suggested that the hyperexpression of TH is probably the mechanism of GYSK syndrome in hypertension.

Adult↗
PubMed2026

Clinicopathologic Spectrum and Intraprostatic Heterogeneity of Primary Mismatch Repair-Deficient Prostate Cancer.

Mismatch repair deficiency (MMRd) is identified in a small subset of prostate cancers and has implications for therapy selection and germline testing. The clinicopathologic spectrum of primary MMRd prostate cancer remains incompletely characterized. We evaluated 32 primary treatment-naive MMRd prostatic adenocarcinomas identified at a single institution. Grade group distribution included GG5 (n=12, 38%), GG4 (n=4, 13%), GG3 (n=7, 22%), and GG2 (n=9, 28%). Intraductal and/or invasive cribriform carcinoma was identified in 78% of cases overall and in 78% of GG2 tumors. MMR protein loss predominantly involved MSH2/MSH6 (78%), with isolated MSH6 loss in 16% and MLH1/PMS2 loss in 6%. Concordant pathogenic MMR gene alterations were identified on targeted NGS in all cases, while concurrent Tier 1/2 HRR gene alterations were present in 11 cases (35%), including ATM, BRCA1, and BRCA2. Germline testing performed in 15 cases identified Lynch syndrome in 5 (33%). MMR immunohistochemistry performed on multiple tissue blocks in 14 cases revealed discordant MMR status between tumor foci in 8 cases (57%), with MMR deficiency consistently restricted to the highest-grade focus and retained expression in spatially separate lower-grade foci. One additional case demonstrated apparent intratumoral heterogeneity within a single biopsy core, with MMR deficiency restricted to a higher-grade component and retained expression in the adjacent lower-grade tumor. These findings demonstrate a broader clinicopathologic spectrum of primary MMRd prostate cancer than previously recognized. Frequent discordance of MMR status between tumor foci highlights the importance of evaluating the highest-grade tumor focus when assessing multifocal primary prostate cancer.

cribriform↗
PubMed1994

Primary amino acid sequence and structure of human pyruvate carboxylase.

Pyruvate carboxylase (PC) (pyruvate:carbon dioxide ligase (ADP-forming), EC 6.4.1.1.), a nuclear-encoded mitochondrial enzyme, catalyzes the conversion of pyruvate to oxaloacetate. We have isolated and characterized cDNAs spanning the entire coding region of human PC. The sequence of human PC has an open reading frame of 3537 nucleotides which encodes for a polypeptide with a length of 1178 amino acids. The identity of the cDNA as PC is confirmed by comparison to PC cDNAs of other species and sequenced peptide fragments of mammalian PC. The M(r) of the full length precursor protein is 129,576 and that of the mature apoprotein is 127,370. RNA blot analysis from a variety of human tissues demonstrates that the highest level of PC mRNA is found in liver corresponding to this tissue's high level of PC activity. Based on homology with other biotin-containing proteins, the ATP, pyruvate, and biotin-binding sites can be identified. One of two patients with documented PC deficiency was found to be missing PC mRNA, further confirming the identity of this cDNA.

Amino Acid Sequence↗
PubMed1997

Further investigation on the role of selenium deficiency in the aetiology and pathogenesis of Keshan disease.

Selenium supplements were not able to restore the ultrastructural changes in the myocardium of latent Keshan disease patients taken by using cardiac catheter endomyocardial biopsy. Observations on the changes of selenium status and the incidence of Keshan disease showed that new latent and naturally-occurring chronic cases were found in the endemic area even after selenium levels had been elevated in the residents to the levels typical in the non-endemic area. These results indicate that although selenium deficiency might be a primary pathogenetic geogen in the occurrence of Keshan disease, it is rather a conditional predisposing factor than a specific or initiative aetiologic factor for the occurrence of Keshan disease. Selenium supplementation could apparently alleviate the higher platelet responsiveness of residents in the endemic area, which might contribute to eliminating the basis for the occurrence of the multifocal perivascular necroses in myocardium of acute and subacute Keshan disease.

Acute Disease↗
PubMed1990

Effects of thiamine deficiency on hepatic cytochromes P450 and drug-metabolizing enzyme activities.

To elucidate the mechanisms by which thiamine deficiency affects hepatic microsomal monooxygenase activities, the effect of thiamine deficiency on two constitutive cytochrome P450 isozymes, P450IIE1 and P450IIC11, was investigated, using weanling male Sprague-Dawley rats. The clinical signs of thiamine deficiency were apparent after feeding a thiamine-deficient diet for 3 weeks. Thiamine deficiency caused an increase in P450IIE1, which was determined by N-nitrosodimethylamine demethylase assay and immunoquantitation of P450IIE1. This increase in the P450IIE1 level was mainly attributed to thiamine deficiency per se but not to dietary restriction. Ketone bodies were not elevated in thiamine-deficient rats, whereas ketone bodies were elevated and may have served as inducing factors in calorically restricted pair-fed animals. Injections of pyruvate or pyrithiamine in addition to thiamine deficiency did not potentiate the induction effect. On the other hand, thiamine deficiency did not affect the level of P450IIC11 during the 3 weeks of feeding the thiamine-deficient diet. In addition, thiamine deficiency increased cytosolic glutathione S-transferase activity but not steroid isomerase activity. The present study demonstrates the specificity of thiamine deficiency per se in the induction of P450IIE1 which does not involve an increase in the ketone body level.

Animals↗
PubMed1993

Suppressive effect of serum from pigs and dogs fed a diet deficient in vitamin E and selenium on lymphocyte proliferation.

The effect of sera collected from either pigs or dogs previously fed a vitamin E (vit E)- and selenium (Se)-deficient diet on in vitro lymphocyte blastogenesis response to mitogens was studied. Porcine sera were obtained from pigs used in 2 different trials. In I trial, 4-wk-old pigs received either a basal diet deficient in vit E and Se or the basal diet supplemented with Vit E, Se or Vit E and Se. Pigs were maintained on their respective diet for 25 d. Canine sera were collected from pups maintained on a deficient diet for 8 wk. Four dogs and 4 pigs maintained on a commercial diet were used as donors of peripheral blood lymphocytes (PBL). The addition of sera from pigs or dogs maintained on a vit E- and Se-deficient diet markedly suppressed both porcine and canine PBL response to mitogens. Porcine PBL blastogenesis was also suppressed when porcine or canine sera were added 8, 24 or 48 h after the beginning of the incubation period to culture containing 1% of fetal bovine serum (FBS). However, the suppressive effect caused by porcine sera was less severe than the one due to canine sera. Addition of 1% FBS in the cultures was sufficient to eliminate the suppression caused by the presence of sera from pigs fed a vit E- and Se-deficient diet. Other attempts to restore the lymphocyte response to mitogens by the addition of indomethacin, diethylcarbamazine or eicosatetraynoic acid, inhibitors of prostaglandin and/or leukotriene synthesis, were not successful. Because of the severe suppression caused by sera from animals maintained on a vit E- and Se-deficient diet on the in vitro response of lymphocytes to mitogenic stimulations, it is very important to take precautions to avoid such deficiency. In vivo suppression of immunocompetent cells to antigenic stimulations may impair the capacity of the host to control infections.

5,8,11,14-Eicosatetraynoic Acid↗
PubMed2006

Origins of peripheral B cells in IL-7 receptor-deficient mice.

The interleukin 7 (IL-7) signaling pathway is critical for early lymphoid differentiation. We found dramatic perturbations in fetal liver B cell development and confirmed a complete absence of developing B cells in the adult bone marrow in mice lacking the IL-7 receptor alpha (IL-7Ralpha) gene. We show that peripheral B-2 and B-1 cell populations are deficient in IL-7Ralpha-/- mice. B-2 follicular cell and peritoneal B-1 cell percentages are reduced, while B-2 marginal zone cell percentages are increased. A comparison of bone marrow and splenic populations at different ages revealed that the splenic B cell populations seen in adult IL-7Ralpha-/- mice first appear during neonatal development. We have measured N-nucleotide addition at the joints of V(D)J rearrangements in splenic B cells and have used it as a somatic marker to define and separate bone marrow-derived B cells from fetal liver-derived B cells. B cells isolated from the bone marrow and spleen of adult and neonatal IL-7Ralpha-deficient mice harbor high levels of N-nucleotide additions similar to those found in equivalent wild-type B cell populations. We conclude that the majority of splenic B cells in IL-7Ralpha-deficient mice originate from the bone marrow and not the fetal liver.

Age Factors↗
PubMed1999

Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.

Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease corresponding to complementation group 11 (CG11), the second most common of the thirteen CGs of peroxisomal biogenesis disorders (PBDs). RCDP is characterized by proximal limb shortening, severely disturbed endochondrial bone formation, and mental retardation, but there is an absence of the neuronal migration defect found in the other PBDs. Plasmalogen biosynthesis and phytanic acid oxidation are deficient, but very long chain fatty acid (VLCFA) oxidation is normal. At the cellular level, RCDP is unique in that the biogenesis of most peroxisomal proteins is normal, but a specific subset of at least four, and maybe more, peroxisomal matrix proteins fail to be imported from the cytosol. In this review, we discuss recent advances in understanding RCDP, most prominently the cloning of the affected gene, PEX7, and identification of PEX7 mutations in RCDP patients. Human PEX7 was identified by virtue of its sequence similarity to its Saccharomyces cerevisiae ortholog, which had previously been shown to encode Pex7p, an import receptor for type 2 peroxisomal targeting sequences (PTS2). Normal human PEX7 expression rescues the cellular defects in cultured RCDP cells, and cDNA sequence analysis has identified a variety of PEX7 mutations in RCDP patients, including a deletion of 100 nucleotides, probably due to a splice site mutation, and a prevalent nonsense mutation which results in loss of the carboxyterminal 32 amino acids. Identification of RCDP as a PTS2 import disorder explains the observation that several, but not all, peroxisomal matrix proteins are mistargeted in this disease; three of the four proteins deficient in RCDP have now been shown to be PTS2-targeted.

Animals↗
PubMed2006

Id1 potentiates NF-kappaB activation upon T cell receptor signaling.

E2A and HEB are basic helix-loop-helix transcription factors that play important roles in T cell development. Expression of Id1, one of their inhibitors, severely impairs T cell development in transgenic mice. Aberrant activation of NF-kappaB transcription factors has been shown to contribute to the developmental defects, but it is not clear whether NF-kappaB activation is directly due to Id1 expression or is secondary to an abnormal thymic environment in Id1 transgenic mice. Here, by using a T cell line model, we demonstrate that Id1 expression stimulates basal levels of NF-kappaB activity and further enhances NF-kappaB activation upon T cell receptor (TCR) signaling achieved by anti-CD3 and anti-CD28 stimulation. Activation of NF-kappaB is partially mediated by the classical pathway involving the interaction between the regulatory subunit, NF-kappaB essential modulator (NEMO), and the catalytic subunit, IkappaB kinase beta. However, a NEMO-independent pathway also appears to be at play. Id1-potentiated activation of NF-kappaB leads to overproduction of cytokines such as tumor necrosis factor alpha and interferon-gamma in a T cell line as well as in thymocytes. Among members of the NF-kappaB family, c-Rel appears to be preferentially activated by Id1, especially during TCR stimulation. Consistently, c-rel deficiency diminishes tumor necrosis factor alpha and interferon-gamma expression induced by Id1 and TCR signaling.

Animals↗
PubMed1988

Changes in pancreatic enzyme specific activities of rats fed a high-fructose, low-copper diet.

This study describes the progressive changes in exocrine pancreatic enzyme specific activities from rats provided with a diet containing either 62% starch (S) or fructose (F) with 6.0 ppm copper (+Cu) or 0.6 ppm (-Cu) from 21 to 61 days of age. Copper-deficient rats had significantly reduced pancreatic weight and DNA, RNA, protein and copper content and superoxide dismutase (SOD) activity after consuming diet for 39 days. These reductions were far more severe in F-Cu than in S-Cu rats. Copper deficiency significantly reduced pancreatic amylase and lipase specific activities, but the effect was more severe in the F-Cu dietary group. Chymotrypsinogen and trypsinogen specific activities were reduced only in the F-Cu dietary group and the CHO x Cu interaction was significant. High dietary fructose and low dietary copper in combination interact to produce severe reductions in pancreatic amylase, lipase, chymotrypsinogen, and trypsinogen specific activities which could not be explained by either copper deficiency or by an increase in dietary fructose alone.

Amylases↗
PubMed2002

Epidemiological survey on the relationship between different iodine intakes and the prevalence of hyperthyroidism.

OBJECTIVE: To investigate the effect of different levels of iodine intake on the prevalence of hyperthyroidism and the impact of universal salt iodization on the incidence of hyperthyroidism. DESIGN: A comparative cross-sectional and longitudinal survey was conducted in three areas with borderline iodine deficiency, mild iodine excess (previously mild iodine deficiency) and severe iodine excess. Universal salt iodization had been introduced 3 years previously except in the area with borderline iodine deficiency. METHODS: In total 16 287 inhabitants from three areas answered a questionnaire concerning the history of thyroid disease. Among them 3761 unselected subjects received further investigations including thyroid function, thyroid autoantibodies, thyroid ultrasonography and urinary iodine excretion. RESULTS: Among areas with median urinary iodine excretion of 103 microg/l, 375 microg/l and 615 microg/l (P<0.05), the prevalence of hyperthyroidism did not differ significantly (1.6%, 2% and 1.2%). The prevalence of subclinical hyperthyroidism was higher in areas with borderline iodine deficiency and mild iodine excess than in the area with severe excess iodine intake (3.7%, 3.9% and 1.1%, P<0.001). The prevalence of Graves' disease and its proportion in hyperthyroidism did not differ among areas. The incidence of hyperthyroidism did not significantly increase after the introduction of universal salt iodization. CONCLUSION: Different iodine intakes under a certain range do not affect the prevalence and type of hyperthyroidism. Subclinical hyperthyroidism is more prevalent in the iodine deficient area than in the severe iodine excessive area. In the area with mild iodine deficiency, the introduction of universal salt iodization may not be accompanied by an increased incidence of hyperthyroidism.

Adolescent↗
PubMed2004

Temporal lobe encephalocoele presenting with seizures and hearing loss.

A case of a bilateral temporal lobe encephalocoele that presented as seizures and hearing loss for many years. Diagnosis was confirmed on CT and MR imaging, which showed deficiencies in the temporal bone. The patient subsequently underwent surgical repair and recovered from his presenting symptoms.

Encephalocele↗
PubMed1997

A cysteine protease inhibitor prevents activation-induced T-cell apoptosis and death of peripheral blood cells from human immunodeficiency virus-infected individuals by inhibiting upregulation of Fas ligand.

Activation of T-cell hybridomas, preactivated normal T cells, and peripheral blood lymphocytes (PBL) from human immunodeficiency virus (HIV)-infected individuals results in apoptosis. In the first two cases, apoptosis is caused by the upregulation of Fas ligand (FasL) and its subsequent interaction with Fas; the mechanism for the spontaneous and activation-induced death of lymph node cells and PBL from HIV+ blood is not known. A number of protease inhibitors have been shown to prevent T-cell apoptosis under all of these circumstances, but the mechanism of action has not been determined. Here we show that the cysteine protease inhibitor E64d prevent activation-induced T hybridoma cell death by inhibiting the upregulation of FasL. Quantitative polymerase chain reaction (PCR) demonstrated that mRNA for FasL is expressed at low levels in fresh PBL from HIV-infected blood, but increases in cultured PBL from both uninfected and HIV-infected donors. The ex vivo apoptosis of PBL from HIV+ donors was prevented by adding the soluble extracellular domain of Fas, demonstrating a requisite role for Fas/ FasL interactions in this form of cell death. Furthermore, while having no effect on the death of PBL from HIV-infected blood stimulated directly via Fas, E64d inhibited FasL upregulation. Thus, aberrant apoptosis of cultured PBL from HIV-infected individuals is mediated by FasL and Fas, and E64d blocks this apoptosis by inhibiting the upregulation of FasL. These results are consistent with the hypothesis that the abnormal expression of Fas and the inducible expression of FasL, contributes to the immunodeficiency of patients with acquired immune deficiency syndrome and suggest that modulation of FasL expression could be an effective target for therapeutic intervention.

Apoptosis↗
PubMedDate not supplied

Physical and social impact of alpha 1-antitrypsin deficiency: results of a survey.

BACKGROUND: Emphysema associated with alpha 1-antitrypsin deficiency can impose serious impairment. OBJECTIVE: To gather information about the impact of severe alpha 1-antitrypsin deficiency. METHODS: Mail survey, descriptive statistics. RESULTS: We sent a survey to 1730 subscribers to a national newsletter, 850 of whom had previously stated they had alpha 1-antitrypsin deficiency. A total of 414 questionnaires were returned; 398 respondents said they had alpha 1-antitrypsin deficiency, and 300 said they had the PiZZ phenotype. Sixty-six respondents who said they had the disease did not know their phenotype. Among the 304 respondents with severe deficiency, the mean age at the time symptoms first appeared was 35.0 years, but the mean age when the disease was diagnosed was 41.3 years. Overall, 75.3% of respondents with severe deficiency reported at least one adverse effect: 44.4% retired early, and 19.1% changed to a physically easier job. The duration of diagnostic delay correlated with the degree of adverse psychosocial effects. CONCLUSIONS: Alpha 1-antitrypsin deficiency frequently escapes diagnosis despite many medical encounters. Affected individuals are often unaware of basic details of their disease. Many patients report adverse psychosocial effects. Delay in diagnosing this disease is associated with adverse psychosocial effects.

Adolescent↗
PubMed2026

Functional editing of the OTC locus by targeted integration with phenotype correction and restoration of endogenous expression patterns.

Here, we report highly efficient functional repair of the ornithine transcarbamylase (OTC) locus in mutant mouse and human hepatocytes in vivo using a dual adeno-associated virus system delivering CRISPR-Cas9 editing reagents and a promoterless donor for targeted integration. The approach was mutation agnostic and targeted intronic sequences to prevent inadvertent inactivation of hypomorphic alleles. Notably, in a murine model, we corrected the metabolic defect and simultaneously achieved liver-wide restoration of physiological metabolic zonation of Otc expression by capturing native cis-acting regulatory elements. The effectiveness of this approach was confirmed using a universally configured therapeutic cassette in patient-derived primary human hepatocytes in vivo. These data provide a powerful template to guide further optimization of this approach and, given the high editing efficacy required for phenotypic effect in OTC deficiency, have broader relevance to other liver disease phenotypes.

Animals↗
PubMedDate not supplied

Vitamin D deficiency rickets due to inappropriate feeding: report of one case.

Vitamin D deficiency rickets is rare among infants and children in the industrialized countries. In this paper, we report a 2-year-5-month-old girl with aching and bowed legs. A food allergy with atopic dermatitis was diagnosed since her early infancy. Strict dietary restrictions were done and she was mostly fed soybean juice and rice foods. Fortified soybean formula (Isomil) was introduced one month before admission. Vitamin D deficiency rickets was diagnosed by a history of inappropriate feeding, roentgenographic and laboratory findings. The therapeutic regimen included 1, 25-dihydroxycholecalciferol 0.5 ug/day and calcium carbonate 100 mg/kg/day. Extensive nutritional counseling was also given for correction of aberrant dietary practices. After a one-year follow-up, there was radiological evidence of bone healing, and marked improvement of leg deformities.

Bone and Bones↗
PubMed2004

Immunological and clinical features of pediatric patients with primary hypogammaglobulinemia in Taiwan.

We retrospectively reviewed the clinical and immunological features as well as the outcome of children with a diagnosis of primary hypogammaglobulinemia, who were treated at the National Taiwan University Hospital between 1984 and 2001. A total of 33 patients were enrolled: seventeen patients with common variable immunodeficiency (CVID), six patients with selective immunoglobulin deficiencies (one subclass IgA and five IgG), four patients with severe combined immunodeficiency (SCID), three patients with transient hypogammaglobulinemia of infancy (THI) and three patients with X-linked (Bruton) agammaglobulinemia (XLA). In addition to recurrent sinopulmonary infections and prolonged fever, allergic diseases are noted in 76% of CVID patients and 100% of patients with selective immunodeficiencies. Immunoglobulin levels were extremely low in XLA and decreased in CVID patients. Three SCID patients had decreased mean absolute lymphocyte counts of 290/mm3. Long-term complications included bronchiectasis in 2 XLA patients, 2 CVID patients and 1 patient with selective immunodeficiency; short stature in one of each XLA, SCID, and CVID patients respectively; poor school performance in 2 SCID patients and 1 XLA patient; and hemolytic anemia in 1 CVID patient. We concluded that in addition to a thorough physical examination, a family history of early death from infection and past history of neonatal hyperbilirubinemia, are crucial in evaluating a patient with suspicious primary hypogammaglobulinemia. The associated symptoms of primary hypogammaglobulinemia, such as recurrent sinopulmonary infections, prolonged fever and allergic diseases, are also diagnostic clues. In the treatment of hypogammaglobulinemia, early and regular high doses of Intravenous immunoglobulin (IVIG) supplement may avoid the development or decrease the severity of bronchiectasis.

Agammaglobulinemia↗