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1. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

Author

Kelly, M, Park, M, Mihalek, I, Rochtus, A, Gramm, M, Perez-Palma, E, Axeen, ET, Hung, CY, Olson, H, Swanson, L, Anselm, I, Briere, LC, High, FA, Sweetser, DA, Kayani, S, Snyder, M, Calvert, S, Scheffer, IE, Yang, E, Waugh, JL, Lal, D, Bodamer, O, Poduri, A, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Baker, E, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bellen, HJ, Bernstein, JA, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Chen, S, Clark, GD, Coakley, TR, Cogan, JD, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Davids, M, Davidson, JM, Dayal, JG, Dell'Angelica, EC, Dhar, SU, Dipple, KM, Donnell-Fink, LA, Dorrani, N, Dorset, DC, Douine, ED, Draper, DD, Dries, AM, Eckstein, DJ, Emrick, LT, Eng, CM, Enns, G-GM, Eskin, A, Esteves, C, Estwick, T, Fairbrother, L, Fernandez, L, Ferreira, C, Fieg, EL, Fisher, PG, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldman, AM, Goldstein, DB, Gould, SE, Gourdine, J-PF, Groden, CA, Gropman, AL, Haendel, M, Hamid, R, Hanchard, NA, High, F, Holm, IA, Horn, J, Howerton, EM, Huang, Y, Jamal, F, Jiang, Y-H, Johnston, JM, Jones, AL, Karaviti, L, Koeller, DM, Kohane, IS, Kohler, JN, Konick, S, Koziura, M, Krasnewich, DM, Krier, JB, Kyle, JE, Lalani, SR, Lau, CC, Lazar, J, LeBlanc, K, Lee, BH, Lee, H, Levy, SE, Lewis, RA, Lincoln, SA, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Majch-erska, MM, Malicdan, MC, Mamounas, LA, Manolio, TA, Markello, TC, Marom, R, Martin, MG, Martinez-Agosto, JA, Mar-waha, S, May, T, McConkie-Rosell, A, McCormack, CE, McCray, AF, Merker, JD, Metz, TO, Might, M, Moretti, PM, Morimoto, M, Mulvihill, JJ, Murdock, DR, Murphy, JL, Muzny, DM, Nehrebecky, ME, Nelson, SF, Newberry, JS, Newman, JH, Nicholas, SK, Novacic, D, Orange, JS, Orengo, JP, Pallais, JC, Palmer, CGS, Papp, JC, Parker, NH, Pena, LDM, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Rives, L, Robertson, AK, Rodan, LH, Rosenfeld, JA, Sampson, JB, Samson, SL, Schoch, K, Scott, DA, Shakachite, L, Sharma, P, Shashi, V, Signer, R, Silverman, EK, Sinsheimer, JS, Smith, KS, Spillmann, RC, Stoler, JM, Stong, N, Sullivan, JA, Tan, QK-G, Tifft, CJ, Toro, C, Tran, AA, Urv, TK, Vilain, E, Vogel, TP, Waggott, DM, Wahl, CE, Walker, M, Walley, NM, Walsh, CA, Wan, J, Wangler, MF, Ward, PA, Waters, KM, Webb-Robertson, B-JM, Westerfield, M, Wheeler, MT, Wise, AL, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, Y, Yoon, AJ, Yu, G, Zastrow, DB, Zhao, C, Zheng, A, Kelly, M, Park, M, Mihalek, I, Rochtus, A, Gramm, M, Perez-Palma, E, Axeen, ET, Hung, CY, Olson, H, Swanson, L, Anselm, I, Briere, LC, High, FA, Sweetser, DA, Kayani, S, Snyder, M, Calvert, S, Scheffer, IE, Yang, E, Waugh, JL, Lal, D, Bodamer, O, Poduri, A, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Baker, E, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bellen, HJ, Bernstein, JA, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Chen, S, Clark, GD, Coakley, TR, Cogan, JD, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Davids, M, Davidson, JM, Dayal, JG, Dell'Angelica, EC, Dhar, SU, Dipple, KM, Donnell-Fink, LA, Dorrani, N, Dorset, DC, Douine, ED, Draper, DD, Dries, AM, Eckstein, DJ, Emrick, LT, Eng, CM, Enns, G-GM, Eskin, A, Esteves, C, Estwick, T, Fairbrother, L, Fernandez, L, Ferreira, C, Fieg, EL, Fisher, PG, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldman, AM, Goldstein, DB, Gould, SE, Gourdine, J-PF, Groden, CA, Gropman, AL, Haendel, M, Hamid, R, Hanchard, NA, High, F, Holm, IA, Horn, J, Howerton, EM, Huang, Y, Jamal, F, Jiang, Y-H, Johnston, JM, Jones, AL, Karaviti, L, Koeller, DM, Kohane, IS, Kohler, JN, Konick, S, Koziura, M, Krasnewich, DM, Krier, JB, Kyle, JE, Lalani, SR, Lau, CC, Lazar, J, LeBlanc, K, Lee, BH, Lee, H, Levy, SE, Lewis, RA, Lincoln, SA, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Majch-erska, MM, Malicdan, MC, Mamounas, LA, Manolio, TA, Markello, TC, Marom, R, Martin, MG, Martinez-Agosto, JA, Mar-waha, S, May, T, McConkie-Rosell, A, McCormack, CE, McCray, AF, Merker, JD, Metz, TO, Might, M, Moretti, PM, Morimoto, M, Mulvihill, JJ, Murdock, DR, Murphy, JL, Muzny, DM, Nehrebecky, ME, Nelson, SF, Newberry, JS, Newman, JH, Nicholas, SK, Novacic, D, Orange, JS, Orengo, JP, Pallais, JC, Palmer, CGS, Papp, JC, Parker, NH, Pena, LDM, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Rives, L, Robertson, AK, Rodan, LH, Rosenfeld, JA, Sampson, JB, Samson, SL, Schoch, K, Scott, DA, Shakachite, L, Sharma, P, Shashi, V, Signer, R, Silverman, EK, Sinsheimer, JS, Smith, KS, Spillmann, RC, Stoler, JM, Stong, N, Sullivan, JA, Tan, QK-G, Tifft, CJ, Toro, C, Tran, AA, Urv, TK, Vilain, E, Vogel, TP, Waggott, DM, Wahl, CE, Walker, M, Walley, NM, Walsh, CA, Wan, J, Wangler, MF, Ward, PA, Waters, KM, Webb-Robertson, B-JM, Westerfield, M, Wheeler, MT, Wise, AL, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, Y, Yoon, AJ, Yu, G, Zastrow, DB, Zhao, C, and Zheng, A

Abstract

OBJECTIVE: To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships. METHODS: We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three-dimensional structural protein model. RESULTS: The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. We attributed the same variant in two siblings to parental mosaicism. Patients initially presented with seizures beginning in the first 3 months of life (8/14), developmental delay (4/14), hypotonia (1/14), or movement disorder (1/14). All patients had hypotonia and developmental delay ranging from mild to severe. Nine had epilepsy, and nine had movement disorders, including dystonia, ataxia, chorea, and dyskinesia. The 13 GNAO1 variants in our patients are predicted to result in amino acid substitutions or deletions in the GNAO1 guanosine triphosphate (GTP)-binding region, analogous to those in previous publications. Patients with variants affecting amino acids 207-221 had only movement disorder and hypotonia. Patients with variants affecting the C-terminal region had the mildest phenotypes. SIGNIFICANCE: GNAO1 encephalopathy most frequently presents with seizures beginning in the first 3 months of life. Concurrent movement disorders are also a prominent feature in the spectrum of GNAO1 encephalopathy. All variants affected the GTP-binding domain of GNAO1, highlighting the importance of this region for G-protein signaling and neurodevelopment.

Published
2019

2. Vitamin and Trace Mineral Deficiency and Excess (Chapter 326)

Author

Jameson, J. Larry, Fauci, Anthony S., Kasper, Dennis L., Hauser, Stephen L., Longo, Dan L., Loscalzo, Joseph, Jameson, J L ( J. Larry ), Fauci, A S ( Anthony S. ), Kasper, D L ( Dennis L. ), Hauser, S L ( Stephen L. ), Longo, D L ( Dan L. ), Loscalzo, J ( Joseph ), Suter, Paolo M, Russell, R M, Jameson, J. Larry, Fauci, Anthony S., Kasper, Dennis L., Hauser, Stephen L., Longo, Dan L., Loscalzo, Joseph, Jameson, J L ( J. Larry ), Fauci, A S ( Anthony S. ), Kasper, D L ( Dennis L. ), Hauser, S L ( Stephen L. ), Longo, D L ( Dan L. ), Loscalzo, J ( Joseph ), Suter, Paolo M, and Russell, R M

Published
2018

3. Vitamin and trace Mineral Deficiency and Excess

Author

Kasper, D, Fauci, A, Hauser, S, Longo, D, Jameson, J L, Loscalzo, J, Kasper, D ( D ), Fauci, A ( A ), Hauser, S ( S ), Longo, D ( D ), Jameson, J L ( J L ), Loscalzo, J ( J ), Suter, P M, Kasper, D, Fauci, A, Hauser, S, Longo, D, Jameson, J L, Loscalzo, J, Kasper, D ( D ), Fauci, A ( A ), Hauser, S ( S ), Longo, D ( D ), Jameson, J L ( J L ), Loscalzo, J ( J ), and Suter, P M

Published
2015

4. Vitamin and Trace Mineral Deficiency and Excess (2012) - Chapter 74

Author

Longo, D L, Fauci, A S, Kaspar, D L, Hauser, S L, Jameson, J L, Loscalzo, J, Longo, D L ( D L ), Fauci, A S ( A S ), Kaspar, D L ( D L ), Hauser, S L ( S L ), Jameson, J L ( J L ), Loscalzo, J ( J ), Russell, R M, Suter, P M, Longo, D L, Fauci, A S, Kaspar, D L, Hauser, S L, Jameson, J L, Loscalzo, J, Longo, D L ( D L ), Fauci, A S ( A S ), Kaspar, D L ( D L ), Hauser, S L ( S L ), Jameson, J L ( J L ), Loscalzo, J ( J ), Russell, R M, and Suter, P M

Published
2012

5. Vitamin and trace mineral deficiencies and excess

Author

Longo, D L, Fauci, A S, Kasper, D L, Hauser, S L, Jameson, J L, Loscalzo, J, Longo, D L ( D L ), Fauci, A S ( A S ), Kasper, D L ( D L ), Hauser, S L ( S L ), Jameson, J L ( J L ), Loscalzo, J ( J ), Russel, R M, Suter, P M, Longo, D L, Fauci, A S, Kasper, D L, Hauser, S L, Jameson, J L, Loscalzo, J, Longo, D L ( D L ), Fauci, A S ( A S ), Kasper, D L ( D L ), Hauser, S L ( S L ), Jameson, J L ( J L ), Loscalzo, J ( J ), Russel, R M, and Suter, P M

Published
2011

6. O-Raffinose Crosslinking Substantially Ameliorates the Vasoconstrictive and Nitric-Oxide-Inactivating Effects of Unmodified Human Hemoglobin in the Rat

Author

NAVAL BLOOD RESEARCH LAB BOSTON MA, Lieberthal, W., Fuhro, R., Freedman, J. E., Toolan, G., Loscalzo, J., NAVAL BLOOD RESEARCH LAB BOSTON MA, Lieberthal, W., Fuhro, R., Freedman, J. E., Toolan, G., and Loscalzo, J.

Abstract

We studied the hemodynamic effects of a 20% exchange transfusion with whole blood or highly purified human hemoglobin Ao. We compared the effects of unmodified hemoglobin with o-raffinose crosslinked oligomers of hemoglobin (modified hemoglobin). The unmodified SFH increased systemic vascular resistance (SVR) by approx. 40%, and renal vascular resistance (RVR) by approx. 25%. Cardiac output was markedly reduced (by approx. 20%) and mean arterial pressure (MAP) only modestly increased (by approx. 13%). In contrast, the modified hemoglobin solution caused less increase in SVR (approx. 14%) and did not alter renal hemodynamics or blood pressure. We also compared the ability of the unmodified and crosslinked hemoglobins to inactivate nitric oxide (NO) in vitro using three separate assays; platelet NO release, NO-stimulated platelet cGMP production and EDRF-mediated inhibition of platelet aggregation. The unmodified hemoglobin inactivated NO to a markedly greater extent than the o-raffinose crosslinked hemoglobin in all three assays. Thus, chemical crosslinking with o-raffinose reduces the systemic and renal vasoconstriction as well as the NO-inactivating effects of hemoglobin. We suggest that the change in the vasoactive effects of unmodified hemoglobin induced by o-raffinose crosslinking is related to the associated reduction in NO-inactivation.

Published
1997

7. Decreased Platelet Inhibition by Nitric Oxide in Two Brothers With a History of Arterial Thrombosis

Author

NAVAL BLOOD RESEARCH LAB BOSTON MA, Freedman, J. E., Loscalzo, J., Benoit, S. E., Valeri, C. R., Barnard, M. R., NAVAL BLOOD RESEARCH LAB BOSTON MA, Freedman, J. E., Loscalzo, J., Benoit, S. E., Valeri, C. R., and Barnard, M. R.

Abstract

Highly reactive oxygen species rapidly inactivate nitric oxide (NO), an endothelial product which inhibits platelet activation. We studied platelet inhibition by NO in two brothers with a cerebral thrombotic disorder. Both children had hyperreactive platelets, as determined by whole blood platelet aggregometry and flow cytometric analysis of the platelet surface expression of P-selectin. Mixing experiments showed that the patients' platelets behaved normally in control plasma; however, control platelets suspended in patient plasma were not inhibited by NO. As determined by flow cytometry, in the presence of plasma from either patient there was normal inhibition of the thrombin-induced expression of platelet surface P-selectin by prostacyclin, but not NO. Using a scopoletin assay, we measured a 2.7-fold increase in plasma H2O2 generation in one patient and a 3.4-fold increase in the second patient, both compared with control plasma. Glutathione peroxidase (GSH-Px) activity was decreased in the patients' plasmas compared with control plasma. The addition of exogenous GSH-Px led to restoration of platelet inhibition by NO. These data show that, in these patients' plasmas, impaired metabolism of reactive oxygen species reduces the bioavailability of NO and impairs normal platelet inhibitory mechanisms. These findings suggest that attenuated NO-mediated platelet inhibition produced by increased reactive oxygen species or impaired antioxidant defense may cause a thrombotic disorder in humans.

Published
1995

8. Heparin Causes Platelet Dysfunction and Induces Fibrinolysis Before the Institution of Cardiopulmonary Bypass

Author

NAVAL BLOOD RESEARCH LAB BOSTON MA, Khuri, S. F., Valeri, C. R., Loscalzo, J., Weinstein, M., Birjiniuk, V., NAVAL BLOOD RESEARCH LAB BOSTON MA, Khuri, S. F., Valeri, C. R., Loscalzo, J., Weinstein, M., and Birjiniuk, V.

Abstract

Platelet dysfunction and increased fibrinolysis are the most important etiologic factors in the hemostatic defect observed following the institution of cardiopulmonary bypass. This study examined the effects of heparin per se, administered prior to the institution of cardiopulmonary bypass, on platelet function and fibrinolysis.

Published
1995

9. Role of nitric oxide in parasympathetic modulation of beta-adrenergic myocardial contractility in normal dogs.

Author

UCL - SSS/IREC/FATH - Pôle de Pharmacologie et thérapeutique, Hare, J M, Keaney, J F, Balligand, Jean-Luc, Loscalzo, J, Smith, T W, Colucci, W S, UCL - SSS/IREC/FATH - Pôle de Pharmacologie et thérapeutique, Hare, J M, Keaney, J F, Balligand, Jean-Luc, Loscalzo, J, Smith, T W, and Colucci, W S

Abstract

In vitro studies indicate that muscarinic cholinergic inhibition of beta-adrenergic cardiac responses may be modulated in part by nitric oxide (NO). To evaluate the role of NO in parasympathetic inhibition of the beta-adrenergic contractile response in vivo, we assessed the inotropic response to dobutamine before and during bilateral vagus nerve stimulation in closed-chest dogs. Dobutamine administration and vagal stimulation were repeated during intracoronary infusion of the NO synthase inhibitor NG-monomethyl-L-arginine (L-NMMA, 10 mumol/min) and again following infusion of L-arginine (100 mg/kg). In eight dogs, intracoronary dobutamine infusion at rates of 25 and 50 micrograms/min increased peak +dP/dt by 131 +/- 24 and 168 +/- 22%, respectively (P < 0.0001). Vagal stimulation (2.5 Hz) attenuated the responses to dobutamine (25 and 50 micrograms/min) by 23 +/- 4 and 21 +/- 4%, respectively (P < 0.001). L-NMMA reduced (by 44-62%; P < 0.001) and L-arginine restored vagal inhibition of the dobutamine-stimulated inotropic response. In a second group of nine dogs, dobutamine was administered systemically to assure a constant concentration in the coronary circulation. Vagal stimulation (2.5 Hz) attenuated the dobutamine-stimulated inotropic response (2.5 and 5.0 micrograms/kg per min) by 40 +/- 12% and 57 +/- 8%, respectively (P < 0.004). As with intracoronary dobutamine, L-NMMA diminished and L-arginine restored vagal inhibition of the inotropic response to dobutamine. Intracoronary infusion of atropine (12 micrograms/min) abolished the vagal inhibitory effect, and intracoronary infusion of 8-bromo-cyclic GMP (1 and 10 mM) caused a dose-dependent attenuation of the dobutamine-stimulated increase in +dP/dt. These data suggest that NO mediates, at least in part, vagal inhibition of the inotropic response to beta-adrenergic stimulation by dobutamine, and thus may play a role in normal physiologic regulation of myocardial autonomic responses.

Published
1995

10. The Platelet Function Defect of Cardiopulmonary Bypass.

Author

BOSTON UNIV MA SCHOOL OF MEDICINE, KESTIN, Anita S., VALERI, C.R., KHURI, S.F., LOSCALZO, J., ELLIS, P.A., BOSTON UNIV MA SCHOOL OF MEDICINE, KESTIN, Anita S., VALERI, C.R., KHURI, S.F., LOSCALZO, J., and ELLIS, P.A.

Abstract

The use of cardiopulmonary bypass (CPB) during cardiac surgery is associated with a hemostatic defect, the hallmark of which is a markedly prolonged bleeding time. However, the nature of the putative platelet function defect is controversial. In this study, blood from 16 patients was collected and analyzed at 10 time points before, during and after CPB. We utilized a whole blood flow cytometric assay to study platelet surface glycoproteins in a) peripheral blood, b) peripheral blood activated in vitro by either phorbol myristate acetate, the thromboxane (TX) A2 analogue U46619, or a combination of adenosine diphosphate and epinephrine, and c) the blood emerging from a bleeding time wound (shed blood). Activation-dependent changes were detected by monoclonal antibodies directed against GPIb, the GPIIb-IIIa complex, and P-selectin. In addition, we measured plasma glycocalicin (a proteolytic fragment of GPIb) and shed blood TXB2 (a stable breakdown product of TXA2). In shed blood emerging from a bleeding time wound, the usual time-dependent increase in platelet surface P-selectin was absent during CPB, but returned to normal within 2 hours. This abnormality paralleled both the CPB-induced prolongation of the bleeding time and a CPB-induced marked reduction in shed blood TXB2 generation.

Published
1992

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