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Gene Review

MAA  -  microphthalmia or anophthalmia and...

Homo sapiens

Synonyms: LZMS, MCOPS1
 
 
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Disease relevance of MAA

  • Lenz microphthalmia syndrome is inherited in an X-linked recessive pattern comprising microphthalmia/anophthalmia, mental retardation, malformed ears, digital, skeletal, and urogenital anomalies (synonym: microphthalmia with associated anomalies (MAA)) [1].
  • There was a strong inverse correlation between the degree of the MAA shunt fraction and arterial hypoxemia (r = -0.726) [2].
  • CONCLUSIONS: A positive MAA scan result in cirrhosis is specific for the presence of moderate to severe HPS [2].
  • METHODS: MAA scans were performed in 25 patients with HPS, 25 cirrhotic patients without HPS, and 15 hypoxemic subjects with intrinsic lung disease alone [2].
  • The levels of the HMW-MAA and of the cytoplasmic MAA showed marked variations in malignant lesions removed from various patients, as well as in autologous metastatic lesions removed from four patients with melanoma [3].
 

Psychiatry related information on MAA

  • The advantages of Pertechnegas, in comparison to aerosolized DTPA, include: less residual ventilation image activity superimposed on the MAA perfusion images, reduced demand for patient cooperation due to fewer required breaths (five or less), and lack of deposition of activity in the central airways [4].
 

High impact information on MAA

  • Altogether, these results showed the formation of MAA antigens during alcohol-induced liver disease and suggest their possible contribution to the development of immunologic reactions associated with alcohol-related liver damage [5].
  • Acetaldehyde and malonildialdehyde can form hybrid protein adducts, named MAA adducts that have strong immunogenic properties [5].
  • Among malignant lesions, the HMW-MAA was found in melanomas, astrocytomas, and skin carcinomas; the cytoplasmic MAA was found in all of the malignant lesions tested, even those which originated from normal tissues without detectable cytoplasmic MAA [3].
  • The patients received either a standard amino acid formula (SAA) (Travasol) or a 50% branched chain enriched formula that was equimolar, leucine, isoleucine, and valine (MAA) (Travasol + Branchamin concentrate) at a dose of 1.0-2.0 g/kg/day in a fixed ratio with 114 glucose calories per gram of nitrogen administered [6].
  • Since the groups were isonitrogenous and the calorie to nitrogen ratios were fixed, it appears that nitrogen equilibrium in surgical stress is proportionate to the amino acid load over a range of 0.05-0.4 g/kg/day of nitrogen; and that MAA are more efficient at inducing nitrogen retention and a reduction in urea excretion [6].
 

Chemical compound and disease context of MAA

  • Chronic ethanol administration to rats results in significant circulating antibody titers against MAA-adducted proteins, and high anti-MAA titers have been associated with the severity of liver damage in humans with alcoholic liver disease [7].
  • At that time, dynamic pulmonary perfusion imaging revealed a plateau time course curve of MAA uptake in the lungs, as compared with findings obtained during the state of severe hypoxemia without indomethacin [8].
  • Analysis of SNA and MAA binding by ELLSA method showed that in the majority of cancer samples the level of sialic acid residues was lower than in non-neoplastic lesions and adenomas [9].
  • After the correction of hypovolemia, all animals were injected 100 Bg (0.1 cc) technetium 99 m macroaggregated albumin (99mTc MAA) via penil vein [10].
  • The company filed an MAA with the EMEA for Targretin Capsules to treat lymphoma in November 1999 [348944] [11].
 

Biological context of MAA

  • During dynamic load alteration induced by the Valsalva maneuver, however, the MAA method performed better (5.4+/-2.8 mm Hg) than both the GAA (5.8+/-3.3 mm Hg, P<.05) and DAA (6.5+/-2.7 mm Hg, P<.01) methods [12].
  • MAA expression was not significantly correlated with WBC, blast count, hemoglobin, or hematocrit [13].
  • We conclude that the combined use of these two Tc-99m agents did not indicate the interruption of breast feeding beyond 24 hr after administration of the MAA, and that for an aerosol ventilation study alone, breast feeding need not be interrupted for more than 4 hr after the test [14].
  • PHA-L and MAA binding decreased after induction of apoptosis by UV-treatment [15].
  • Oligopeptides containing MAAs were prepared either by direct incorporation of a MAA building block or by subjecting a fully assembled SAA-containing peptide to the two-step glycol cleavage/reductive amination procedure [16].
 

Anatomical context of MAA

  • The AA-FA TF was estimated using (1) a single generalized TF (GAA), (2) individualized TFs directly determined from CA-FA recordings in each patient (DAA), and (3) individualized TFs computed from CA-FA recordings in each patient with a mathematical model of the human upper limb (MAA) [12].
  • Radionuclide venography performed by foot vein injection of 99mTc MAA and 99mTc DTPA in a 34-year-old man approximately one year after inferior vena caval ligation demonstrated an unusual collateral pathway between the veins of the lower extremities and the portal vein, and also evidence for multiple hepatic emboli [17].
  • Breast-milk radioactivity after a Tc-99m DTPA aerosol/Tc-99m MAA lung study [14].
  • Perfusion scintigraphy (Tc-99m MAA) during surgery for placement of chemotherapy catheter in hepatic artery: concise communication [18].
  • As a predictive factor MAA expression is comparable to the WBC and superior to the more standard stratification by B- or T-cell markers for this group of patients [13].
 

Associations of MAA with chemical compounds

 

Other interactions of MAA

  • Kinetic constants for CYP2D6 N-dealkylation of MAA and EAA were K(m) 7.9 +/- 5.4 and 3.2 +/- 1.6 muM, and V(max) 501 +/- 35.4 and 702.7 +/- 257 pmol 9AA/min/pmol CYP2D6, respectively [23].
  • Kinetic constants for CYP1A1 N-dealkylation of the 9-N-(methylamino)acridine (MAA) and 9-N-(ethylamino)acridine (EAA) were K(m) 1.09 +/- 0.68 and 0.35 +/- 0.21 muM and the V(max) 61.9 +/- 48.5 and 113.8 +/- 8.4 pmol 9AA/min/pmol CYP1A1, respectively [23].
  • Therefore, we investigated whether methacrylates (a BISGMA-based dental resin, BISGMA, and MAA) and Cyracure UVR 6105, an epoxy monomer, could alter ICAM-1 expression in unstimulated and TNF-alpha-stimulated endothelial cells [24].
  • Application of carbohydrate-specific lectins (ConA, UEA, GSA I, GSA II, MPA, PNA, Jac, WGA, MAA, LPA, SNA) on deparaffinated lung tissue sections from sepsis-associated fatalities and control cases results to some extent in different staining patterns of alveolar epithelial cells and subepithelial seromucous glands of the bronchi [25].
  • The transient dynamic swelling and dissolution behavior during the release of a growth hormone releasing peptide, [D-Trp2-D-Phe5]GHRP, from erodible, non-cross-linked poly(methyl methacrylate-co-methacrylic acid) (PMMA/MAA) beads has been investigated at pH 7.4 as a function of buffer concentration [26].
 

Analytical, diagnostic and therapeutic context of MAA

  • The aim of this study was to assess the role of macroaggregated albumin lung perfusion scans (MAA scans) in the diagnosis of HPS [2].
  • Circulating antibodies against MAA adducts were evaluated in 50 patients with alcohol-induced hepatitis or cirrhosis, in 40 patients with non-alcohol-induced liver disease, in 15 heavy drinkers without liver damage and in 40 healthy controls by enzyme-linked immunosorbent assays (ELISA) [5].
  • Utilizing double-determinant immunoassays (DDIAs), the high-molecular-weight melanoma-associated antigen (HMW-MAA) was detected only in fetal skin and in one nipple of 54 normal tissues from adults tested, while the cytoplasmic MAA recognized by the monoclonal antibody 465 [3].
  • Transmission computed tomography, Tc-99m MAA scintigraphy, and plain chest radiography after experimentally produced acute pulmonary arterial occulusion in the dog [27].
  • The unexpected visualization of the liver during the flow study after intravenous injection of Tc-99m MAA into the dorsal veins of both feet provided the clue to his underlying problem [28].

References

  1. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Horn, D., Chyrek, M., Kleier, S., Lüttgen, S., Bolz, H., Hinkel, G.K., Korenke, G.C., Riess, A., Schell-Apacik, C., Tinschert, S., Wieczorek, D., Gillessen-Kaesbach, G., Kutsche, K. Eur. J. Hum. Genet. (2005) [Pubmed]
  2. Use of macroaggregated albumin lung perfusion scan to diagnose hepatopulmonary syndrome: a new approach. Abrams, G.A., Nanda, N.C., Dubovsky, E.V., Krowka, M.J., Fallon, M.B. Gastroenterology (1998) [Pubmed]
  3. Level of a membrane-bound high-molecular-weight melanoma-associated antigen and a cytoplasmic melanoma-associated antigen in surgically removed tissues and in sera from patients with melanoma. Giacomini, P., Veglia, F., Cordiali Fei, P., Rehle, T., Natali, P.G., Ferrone, S. Cancer Res. (1984) [Pubmed]
  4. Technetium-99m labeled micro aerosol "Pertechnegas". A new agent for ventilation imaging in suspected pulmonary emboli. Ashburn, W.L., Belezzuoli, E.V., Dillon, W.A., Mensh, B.D., Hoogland, D., Yeung, D.W., Coade, G.E. Clinical nuclear medicine. (1993) [Pubmed]
  5. Detection of circulating antibodies against malondialdehyde-acetaldehyde adducts in patients with alcohol-induced liver disease. Rolla, R., Vay, D., Mottaran, E., Parodi, M., Traverso, N., Aricó, S., Sartori, M., Bellomo, G., Klassen, L.W., Thiele, G.M., Tuma, D.J., Albano, E. Hepatology (2000) [Pubmed]
  6. The effect of stress level, amino acid formula, and nitrogen dose on nitrogen retention in traumatic and septic stress. Cerra, F., Blackburn, G., Hirsch, J., Mullen, K., Luther, W. Ann. Surg. (1987) [Pubmed]
  7. Role of malondialdehyde-acetaldehyde adducts in liver injury. Tuma, D.J. Free Radic. Biol. Med. (2002) [Pubmed]
  8. Effects of indomethacin on hepatogenic pulmonary angiodysplasia. Shijo, H., Sasaki, H., Yuh, K., Sakaguchi, S., Okumura, M. Chest (1991) [Pubmed]
  9. Sialylation of intracellular proteins of thyroid lesions. Krzeslak, A., Gaj, Z., Pomorski, L., Lipinska, A. Oncol. Rep. (2007) [Pubmed]
  10. Lung perfusion in hemorrhagic shock of rats: the effects of resuscitation with whole blood, saline or Hes 6%. Turranoglu, S., Kaya, S., Kararmaz, A., Turhanoglu, A.D. Tohoku J. Exp. Med. (2001) [Pubmed]
  11. Bexarotene ligand pharmaceuticals. Hurst, R.E. Current opinion in investigational drugs (London, England : 2000) (2000) [Pubmed]
  12. On-line synthesis of the human ascending aortic pressure pulse from the finger pulse. Karamanoglu, M., Feneley, M.P. Hypertension (1997) [Pubmed]
  13. Expression of myeloid antigens by blast cells in acute lymphoblastic leukemia of adults. The Southwest Oncology Group experience. Boldt, D.H., Kopecky, K.J., Head, D., Gehly, G., Radich, J.P., Appelbaum, F.R. Leukemia (1994) [Pubmed]
  14. Breast-milk radioactivity after a Tc-99m DTPA aerosol/Tc-99m MAA lung study. Mountford, P.J., Hall, F.M., Wells, C.P., Coakley, A.J. J. Nucl. Med. (1984) [Pubmed]
  15. Glycosylation alterations of cells in late phase apoptosis from colon carcinomas. Rapoport, E., Pendu, J.L. Glycobiology (1999) [Pubmed]
  16. Synthesis and application of carbohydrate-derived morpholine amino acids. Grotenbreg, G.M., Christina, A.E., Buizert, A.E., van der Marel, G.A., Overkleeft, H.S., Overhand, M. J. Org. Chem. (2004) [Pubmed]
  17. Hepatic emboli following inferior vena caval ligation. Brief report. Park, H.M., Archer, E. Radiology. (1977) [Pubmed]
  18. Perfusion scintigraphy (Tc-99m MAA) during surgery for placement of chemotherapy catheter in hepatic artery: concise communication. Yang, P.J., Thrall, J.H., Ensminger, W.D., Niederhuber, J.E., Gyves, J.W., Tuscan, M., Doan, K., Cozzi, E. J. Nucl. Med. (1982) [Pubmed]
  19. Excretion of radionuclides in human breast milk after the administration of radiopharmaceuticals. Ahlgren, L., Ivarsson, S., Johansson, L., Mattsson, S., Nosslin, B. J. Nucl. Med. (1985) [Pubmed]
  20. Extravasation from venous catheter: a serious complication potentially missed by lung imaging. Spicer, K.M., Gordon, L. J. Nucl. Med. (1983) [Pubmed]
  21. Pyrazolone derivatives. Brogden, R.N. Drugs (1986) [Pubmed]
  22. Rapid miniaturized chromatographic quality-control procedures for Tc-99m radiopharmaceuticals. Zimmer, A.M., Pavel, D.G. J. Nucl. Med. (1977) [Pubmed]
  23. A real-time fluorescence assay for measuring N-dealkylation. Mayer, R.T., Dolence, E.K., Mayer, G.E. Drug Metab. Dispos. (2007) [Pubmed]
  24. Effects of dental resins on TNF-alpha-induced ICAM-1 expression in endothelial cells. Kostoryz, E.L., Tong, P.Y., Strautman, A.F., Glaros, A.G., Eick, J.D., Yourtee, D.M. J. Dent. Res. (2001) [Pubmed]
  25. Immunohistochemical detection of sepsis-induced lung injury in human autopsy material. Tsokos, M. Legal medicine (Tokyo, Japan) (2003) [Pubmed]
  26. Swelling and dissolution kinetics during peptide release from erodible anionic gel beads. Lee, P.I. Pharm. Res. (1993) [Pubmed]
  27. Transmission computed tomography, Tc-99m MAA scintigraphy, and plain chest radiography after experimentally produced acute pulmonary arterial occulusion in the dog. Grossman, Z.D., Gagne, G., Zens, A., Thomas, F.D., Chamberlain, C.C., Singh, A., Cohen, W.N., Heitzman, E.R. J. Nucl. Med. (1979) [Pubmed]
  28. Uptake of Tc-99m MAA by the liver during a thromboscintigram/lung scan. Marcus, C.S., Parker, L.S., Rose, J.G., Cullison, R.C., Grady, P.J. J. Nucl. Med. (1983) [Pubmed]
 
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