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923 Possible Causes for ARG44TER, Cirrhosis, DEFICIENCY,, DUE, KINASE, Liver, PHOSPHORYLASE, TO

Did you mean: ARG44TER, Cirrhosis, DEFICIENCY, DUE, KINASE, livedo, PHOSPHORYLASE, TO

  • Phosphorylase Kinase Deficiency

    cirrhosis risk.[ncbi.nlm.nih.gov] This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms[orpha.net] Abstract Two Dutch patients with liver phosphorylase kinase (PhK) deficiency were studied for abnormalities in the PhK liver alpha (alpha L) subunit mRNA by reversed-transcribed-PCR[ncbi.nlm.nih.gov] There are several types of PKD, stemming from the deficiency of either liver phosphorylase kinase, muscle phosphorylase kinase, or both.[symptoma.com] Figure 1 PHKG2 missense mutations in a patient with Phk deficiency and liver cirrhosis.[jmg.bmj.com] […] the testis/liver gamma subunit (PHKG2) was established.[ncbi.nlm.nih.gov] CONCLUSION: Uncooked cornstarch treatment may be helpful in hepatic phosphorylase deficiency.[ncbi.nlm.nih.gov] Abstract We report a longitudinal study of 41 patients with liver glycogenosis due to phosphorylase kinase deficiency.[ncbi.nlm.nih.gov]

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  • Cachexia

    cirrhosis, Crohn’s disease, rheumatoid arthritis, stroke, and neurological degenerative disease.[society-scwd.org] We downgraded the quality of the evidence due to lack of data, high or unclear risk of bias of the studies and small study size.[ncbi.nlm.nih.gov] Urinary indicans, small bowel histology, liver function tests, and thyroid and renal function were normal.[ncbi.nlm.nih.gov] […] med.uni-heidelberg.de Abstract We report on a patient suffering from chronic anorexia nervosa who in the course of treatment showed elevated high-sensitive troponin T, creatine kinase[ncbi.nlm.nih.gov] Malnutrition is deficiency in one or more nutrients that must be ingested to satisfy the energetic needs of the organism.[symptoma.com] Abstract While mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is typically associated with mutations in the nuclear gene encoding for thymidine phosphorylase[ncbi.nlm.nih.gov] Gov't MeSH terms AMP-Activated Protein Kinases/metabolism Animals Azepines/pharmacology Cachexia/genetics Cachexia/metabolism Cachexia/prevention & control* Cell Line, Tumor[ncbi.nlm.nih.gov] CONCLUSION: Cancer cachectic patients have multiple symptoms such as anemia, impaired kidney function and impaired liver function with elements of mild cholestasis, lower[ncbi.nlm.nih.gov]

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  • Adenosine

    Cirrhosis is a liver pathology originated by hepatocytes, Kupffer and hepatic stellate cells interactions and transformations.[ncbi.nlm.nih.gov] Summary Epidemiology SCID due to ADA deficiency accounts for 10-15% of all cases of SCID.[orpha.net] Hypermethioninemia is occasionally discovered incidentally, but it is often disregarded as an unspecific finding, particularly if liver disease is involved.[ncbi.nlm.nih.gov] RESULTS: We identified 15 subjects with ADA2 deficiency, 5 of whom were asymptomatic (relatives of index cases; ages 5-42 years).[ncbi.nlm.nih.gov] The SES was fabricated by covalent binding of tri-enzymes, adenosine deaminase (ADA), purine nucleoside phosphorylase (PNP), and xanthine oxidase (XO) along with hydrazine[ncbi.nlm.nih.gov] Abstract Previous studies showed that adenosine monophosphate-activated protein kinase (AMPK), which plays as an intracellular energy sensor, promotes the differentiation[ncbi.nlm.nih.gov] Importantly, DEX‑induced downregulation of P‑gp was associated with adenosine 5'‑monophosphate-activated protein kinase (AMPK) activation, as it was significantly attenuated[ncbi.nlm.nih.gov] CLINICAL PRESENTATION AND INTERVENTION: A 41-year-old female patient presented with palpitations due to supraventricular tachycardia.[ncbi.nlm.nih.gov]

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  • Aldehyde

    Cirrhosis was a strong determinant of a lower platelet count.[ncbi.nlm.nih.gov] Abstract Over the years, significant progress has been made in reducing metabolic instability due to cytochrome P450-mediated oxidation.[ncbi.nlm.nih.gov] Two to three surrogate peptides per protein were quantified in trypsin digests of liver cytosolic samples and calibrator proteins under optimal conditions of reproducibility[ncbi.nlm.nih.gov] We also found that ALDH2 altered the redox status of cells by regulating acetaldehyde levels and that it further activated the AMP-activated protein kinase (AMPK) signaling[ncbi.nlm.nih.gov] Aldehyde dehydrogenase 2 (ALDH2) plays a key role in removing reactive toxic aldehydes and a deficient variant ALDH2 genotype (ALDH2*2) is prevalent among East Asians.[ncbi.nlm.nih.gov] A novel series of 1-(aryl aldehyd oxime) uracil derivatives were synthesized, characterized and evaluated for its inhibitory activity against thymidine phosphorylase.[ncbi.nlm.nih.gov] We also discuss evidence for the association between ALDH2 deficiency, a common East Asianspecific mutation, and these neuropathologies.[ncbi.nlm.nih.gov] Abstract The antioxidant system results essential to control and prevent lipid peroxidation due to stress damage in type 2 diabetes.[ncbi.nlm.nih.gov]

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  • Vibrio Cholerae

    Liver cirrhosis, chronic liver disease and alcohol abuse were common comorbidities.[ncbi.nlm.nih.gov] ICD-10-CM Codes › A00-B99 Certain infectious and parasitic diseases › A00-A09 Intestinal infectious diseases › A00- Cholera › Cholera due to Vibrio cholerae 01, biovar cholerae[icd10data.com] We report this fatal case of non-O1/non-O139 V. cholera sepsis and review the literature on non-O1/non-O139 V. cholerae sepsis in patients with chronic liver disease.[ncbi.nlm.nih.gov] The chitinases and the chitin utilization pathway are regulated by a two-component sensor histidine kinase ChiS in V. cholerae.[ncbi.nlm.nih.gov] Further, in the competition experiments, biofilm deficient and proficient mutants were found reduced in their colonization ability and outcompeted by their parent strain.[ncbi.nlm.nih.gov] These phosphorylases and transmembrane transporters might be involved in the transport and metabolism of other non-antibiotic substances, enabling this kind of plasmid to[ncbi.nlm.nih.gov] Protein kinase inhibitor Go6976 suppressed JNK phosphorylation and PARP cleavage by TNF-α/Cholix.[ncbi.nlm.nih.gov] We also generated expression plasmids to ectopically express all 7 chitinases in our chitinase deficient strain.[biorxiv.org]

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  • Olivopontocerebellar Atrophy

    […] characterized by elevated liver functions tests and hypoalbuminemia was found at autopsy to have an unusual combination of olivopontocerebellar atrophy (OPCA), micronodular cirrhosis[ncbi.nlm.nih.gov] […] of atrial natriuretic peptide due to abnormal diurnal variation in blood pressure may be involved in the mechanism of nocturnal polyuria.[ncbi.nlm.nih.gov] The clinical features (failure to thrive, hypotonia, liver disease, effusions, and visual inattention) were similar to those of the four cases already reported, as were the[ncbi.nlm.nih.gov] Abstract We examined protein kinase C (PKC) activity and inositol 1,4,5-trisphosphate (InsP3) binding in frontal cortex (FC) and cerebellar cortex (CC) of normal humans, patients[ncbi.nlm.nih.gov] The significance of adenylate deaminase deficiency in these twins with OPCA is discussed.[ncbi.nlm.nih.gov] […] history Species Homo sapiens Common Name Human Remarks PDL at Freeze 5.49 Passage Frozen 5 IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase[catalog.coriell.org] Additional features were biochemical evidence of purine overproduction and liver dysfunction.[ncbi.nlm.nih.gov] Abstract Corticobasal degeneration (CBD) is a disorder affecting cognition and movement due to a progressive neurodegeneration associated with distinctive neuropathologic[ncbi.nlm.nih.gov]

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  • Liver Dysfunction

    BACKGROUND: Increased pro-brain natriuretic peptide (pro-BNP) or troponin T-hypersensitivity (TnT-HSST) levels are common in liver cirrhosis.[ncbi.nlm.nih.gov] The patient was admitted to our hospital due to diabetic ketoacidosis.[ncbi.nlm.nih.gov] disease.[ncbi.nlm.nih.gov] Significant hyperbilirubinaemia, anemia, and splenomegaly are common features in patients with severe haemolysis due to pyruvate kinase (PK) deficiency.[ncbi.nlm.nih.gov] Clinicopathologic and prognostic significance of an angiogenic factor, thymidine phosphorylase, in human colorectal carcinoma. J. Natl.[clincancerres.aacrjournals.org] Abstract Autoimmune diseases, especially autoimmune thyroid disease, frequently develop after delivery due to the immune rebound mechanism.[ncbi.nlm.nih.gov] The study included 48 consecutive liver transplantation patients with established cirrhosis.[ncbi.nlm.nih.gov] AIM: The aim of this study was to determine whether women with pregnancy-induced antithrombin deficiency (PIATD) had higher risk of liver dysfunction in the absence of thrombocytopenia[ncbi.nlm.nih.gov]

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  • Bacterial Infections

    This study aimed to identify predictors of early readmission (30 days) and of mid-term mortality (6 months) in patients with liver cirrhosis discharged after a hospitalization[ncbi.nlm.nih.gov] Despite the highly-specialized interventions, the mortality and morbidity is still high due to a number of reasons including nosocomial infections, which are the most likely[ncbi.nlm.nih.gov] RESULTS: 501 patients (63% male, 48% alcoholic liver disease, median Model of End-stage Liver Disease (MELD) 17) underwent 781 admissions over the study period.[ncbi.nlm.nih.gov] Differential diagnosis Differential diagnoses include interleukin-1 receptor associated kinase-4 (IRAK4) deficiency (see this term), which can be ruled out by the absence[orpha.net] Abstract We report on 11 cases of specific polysaccharide antibody deficiency (SPAD) revealed in adulthood by severe infections with encapsulated bacteria.[ncbi.nlm.nih.gov] ., and Jonsson, A-B. (2016) Neisseria meningitidis polynucleotide phosphorylase affects aggregation, adhesion and virulence . Infect Immun. 84:1501-1513.[su.se] Abstract C2 deficiency was demonstrated in an 11-year-old boy with a past history of recurrent purulent otitis media, pneumonia, H. influenzae meningitis and S. pneumoniae[ncbi.nlm.nih.gov] OBJECTIVE: Patients with liver cirrhosis (LC) are at increased risk for bacterial infections.[ncbi.nlm.nih.gov]

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  • Carnitine Deficiency

    Cirrhosis.[scirp.org] Carnitine deficiency in adulthood is unusual, and encephalopathy due to carnitine deficiency as a result of celiac disease has not been described previously.[ncbi.nlm.nih.gov] Abstract The ultrastructural brain and liver pathology in an infant, who died of acute encephalopathy due to systemic carnitine deficiency (CD), an important condition mimicking[ncbi.nlm.nih.gov] Serum creatine kinase was increased and muscle biopsy revealed a lipid storage myopathy affecting predominantly the type I fibres.[ncbi.nlm.nih.gov] Considering malnutrition as a major risk factor of TB and the safety of carnitine supplementation, use of carnitine as an adjunctive modality instead of other standard interventions[ncbi.nlm.nih.gov] . • We split glycogen with an enzyme called glycogen phosphorylase. • This uses inorganic phosphate to form G-‐1-‐P and G-‐6-‐P. • In muscle, these processe ( glycogen degradation[nurulfahadis94.weebly.com] She was diagnosed with valproate-induced encephalopathy due to carnitine deficiency. Clinical improvement occurred with oral carnitine supplementation.[ncbi.nlm.nih.gov] Urine ketones level was slightly decreased, serum transaminases, creatine kinase and lactate dehydrogenase levels were increased.[ncbi.nlm.nih.gov]

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  • Factor IX

    Abstract : Liver transplantation is one of the treatments for haemophilic patients having severe liver cirrhosis who are infected with the hepatitis C virus.[ncbi.nlm.nih.gov] Recombinant-activated FVII and corticosteroid were prescribed due to macrohematuria-related hypovolemia and anemia, which resolved satisfactorily.[ncbi.nlm.nih.gov] End-stage liver disease together with hemophilia exposes patients to greater risks of bleeding complications during the perioperative period with consequent difficulties in[ncbi.nlm.nih.gov] Treatment with EGF-F9 increased the level of phosphorylated p38 mitogen-activated protein kinase (MAPK), but not that of phosphorylated MAPK 44/42 or c-Jun N-terminal kinase[ncbi.nlm.nih.gov] […] component [PTC] deficiency , F9 Deficiency , Deficiencies, F9 , Hemophilia B(M) , Plasma Thromboplastin Component Deficiency , Deficiency, F9 , F9 Deficiencies , Hemophilia[fpnotebook.com] Gel Novex 4-12% Bis-Tris Load Human Factor IX, 1 µg per lane Buffer MOPS Standard SeeBluePlus 2; Myosin (191 kDa), Phosphorylase B (97 kDa), BSA (64 kDa), Glutamic Dehydrogenase[haemtech.com] However, due to the rarity of this combination, it is difficult to draw a best practice recommendation.[ncbi.nlm.nih.gov] […] that control blood clotting become over active (disseminated intravascular coagulation) Fat malabsorption (not absorbing enough fat from your diet) Liver disease (such as cirrhosis[ucsfhealth.org]

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