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6. Mutant neurogenin-3 in congenital malabsorptive diarrhea

Author

Jiafang Wang, Cortina, Galen, Wu, S. Vincent, Tran, Robert, Jang-Hyeon Cho, Ming-Jer Tsai, Bailey, Travis J., Jamrich, Milan, Ament, Marvin E., Treem, William R., Hill, Ivor D., Vargas, Jorge H., Gershman, George, Farmer, Douglas G., Reyen, Laurie, and Martin, Martin G.

Subjects
Diarrhea -- Genetic aspects, Gene mutations -- Research, Genetic disorders -- Genetic aspects
Abstract

The genomic DNA from three unrelated patients with sparse enteroendocrine cells are screened for mutations of neurogenin-3 (NEUROG3) and then the ability of the observed mutations to alter NEUROG3 function is tested using in vitro and in vivo assays. Loss-of-function mutations in NEUROG3 causes a disorder characterized by malabsorptive diarrhea and a lack of intestinal enteroendocrine cells.

Published
2006

8. CONTRIBUTORS

Author

Aaskov, John G., primary, Abdel-Rahman, Susan M., additional, Aebi, Christoph, additional, Ament, Marvin E., additional, Anderson, Marsha S., additional, Arnon, Stephen S., additional, Arvin, Ann M., additional, Atkins, Jane T., additional, Atmar, Robert L., additional, Baker, Carol J., additional, Baltimore, Robert S., additional, Barenkamp, Stephen J., additional, Barnett, Elizabeth D., additional, Basow, Robert D., additional, Beisel, William R., additional, Bell, Beth P., additional, Benard, Gil, additional, Bernstein, David I., additional, Bernt, Kathrin M., additional, Berry, Andrea A., additional, Bluestone, Charles D., additional, Blumer, Jeffrey L., additional, Bortolussi, Robert, additional, Boyanton, Bobby L., additional, Boyer, Kenneth M., additional, Bradley, John S., additional, Brady, Michael T., additional, Britt, William J., additional, Broderick, Annemarie, additional, Bronstein, David E., additional, Bruckner, David A., additional, Buckingham, Steven C., additional, Burgos, Ana, additional, Byington, Carrie L., additional, Campbell, Judith R., additional, Cantu, Samson, additional, Chacko, Mariam R., additional, Chapman, Louisa E., additional, Charrel, Rémi N., additional, Chen, Tempe K., additional, Cherry, James D., additional, Chesney, P. Joan, additional, Chilakapati, Madhuri C., additional, Chinen, Javier, additional, Ching, Natascha, additional, Clark, H. Fred, additional, Cleary, Thomas G., additional, Coats, David K., additional, Correa, Armando G., additional, Cross, J. Thomas, additional, Cutrer, William B., additional, Dagan, Ronald, additional, Dassey, David E., additional, Davis, Jeffrey P., additional, Demmler-Harrison, Gail J., additional, Dennehy, Penelope H., additional, Doan, Minh L., additional, Dobson, Simon R., additional, Drutz, Jan E., additional, Edelstein, Paul H., additional, Edwards, Kathryn M., additional, Edwards, Morven S., additional, English, B. Keith, additional, Estripeaut, Dora, additional, Fan, Leland L., additional, Feigin, Ralph D., additional, Ferry, George D., additional, Fiore, Anthony E., additional, Fischer, Philip R., additional, Fisher, Randall G., additional, Flynn, Patricia M., additional, Flynn, Thomas R., additional, Frenkel, Lisa M., additional, Friedman, Ellen M., additional, Friedman, Richard A., additional, Garcia, Lynne S., additional, Gavin, Patrick J., additional, Gerber, Michael A., additional, Gershon, Anne A., additional, Gilger, Mark A., additional, Gillespie, Susan L., additional, Glaze, Daniel G., additional, Glezen, W. Paul, additional, Glodé, Mary P., additional, Goldmann, Donald A., additional, Goldstein, Ellie J.C., additional, Goldstein, Nira A., additional, Gonzales, Edmond T., additional, Gorman, Mark P., additional, Green, Michael D., additional, Greenberg, David, additional, Groll, Andreas H., additional, Grose, Charles, additional, Gubler, Duane J., additional, Guerrero, Roberto A., additional, Guevara, Javier Nieto, additional, Gutierrez, Kathleen M., additional, Hall, Caroline Breese, additional, Halstead, Scott B., additional, Hamano, Shinjiro, additional, Hamill, Richard J., additional, Hammerschlag, Margaret R., additional, Hanson, I. Celine, additional, Harik, Nada, additional, Harrison, Rick E., additional, Healy, C. Mary, additional, Heininger, Ulrich, additional, Heresi, Gloria P., additional, Hiatt, Peter W., additional, Hill, Harry R., additional, Hilmers, David C., additional, Hoffman, Jill A., additional, Hon, Ellis K.L., additional, Hostetter, Margaret K., additional, Hotez, Peter J., additional, Hughes, Walter T., additional, Hulten, Kristina G., additional, Hunstad, David A., additional, Hurwitz, Eugene S., additional, Huskins, W. Charles, additional, Hyun, David Y., additional, Jackson, Mary Anne, additional, Jacobs, Michael R., additional, Jacobs, Richard F., additional, Jaeger, Jenifer L., additional, Jhaveri, Ravi R., additional, Johnston, Samantha, additional, Jonas, Maureen M., additional, Julapalli, Meena R., additional, Kaplan, Edward L., additional, Kaplan, Sheldon L., additional, Karpen, Saul J., additional, Kearns, Gregory L., additional, Keller, Margaret A., additional, Khoury, Chaouki K., additional, Kleiman, Martin B., additional, Klein, Jerome O., additional, Kline, Mark W., additional, Knapp, Katherine M., additional, Kokkinos, Heidi M., additional, Krause, Peter J., additional, Krilov, Leonard R., additional, Krogstad, Paul, additional, Kuhls, Thomas L., additional, de Lamballerie, Xavier, additional, La Pine, Timothy R., additional, Laurens, Matthew B., additional, Leach, Charles T., additional, Leggiadro, Robert J., additional, Lennon, Diana R., additional, Lentzsch-Parcells, Carolyn, additional, Leroy, Eric, additional, Leung, Chi Wai, additional, Levy, Moise L., additional, Lewis, Karen, additional, Losikoff, Phyllis T., additional, Lotze, Timothy Edward, additional, Lowry, Adam W., additional, Mailman, Timothy, additional, Maloney, Susan A., additional, Mascola, Laurene, additional, Mason, Edward O., additional, Matson, David O., additional, Mayer, Alan N., additional, Mazade, Marc A., additional, McAuley, James B., additional, McCracken, George H., additional, McIntosh, Kenneth, additional, McJunkin, James E., additional, McKee, Kelly T., additional, McLeod, Rima L., additional, McLin, Valérie A., additional, Mendes-Giannini, Maria José Soares, additional, Meyers, Wayne M., additional, Michaels, Marian G., additional, Michelow, Ian C., additional, Milisavljevic, Vladana, additional, Miller, Aaron M., additional, Miller, James N., additional, Miller, Marjorie J., additional, Mills, James N., additional, Minnich, Linda L., additional, Moran, Ann, additional, Murphy, James R., additional, Nag, Pratip K., additional, Nania, Joseph J., additional, Nataro, James P., additional, Nicome, Roger K., additional, Nielsen-Saines, Karin, additional, Nieves, Delma J., additional, Oberhelman, Richard A., additional, Ochoa, Theresa J., additional, Oermann, Christopher M., additional, Olteanu, Alina, additional, Overturf, Gary D., additional, Palazzi, Debra L., additional, Pannaraj, Pia S., additional, Patel, Janak A., additional, Patrick, Christian C., additional, Paysse, Evelyn A., additional, Pérez, Norma, additional, Peters, C.J., additional, Petri, William A., additional, Phillips, Brandon Lane, additional, Pickering, Larry K., additional, Piecuch, Joseph F., additional, Pinheiro, Francisco P., additional, Plotkin, Stanley A., additional, Pomeroy, Scott L., additional, Pong, Alice, additional, Pugatch, David L., additional, Purcell, Joan S., additional, Ramraj, Ramya, additional, Remington, Jack S., additional, Rodriguez, Carina A., additional, Romero, José R., additional, Ross, Benjamin A., additional, Ross, Lawrence A., additional, Rowen, Judith L., additional, Rupprecht, Charles E., additional, Sáez-Llorens, Xavier, additional, Saiman, Lisa, additional, Geme, Joseph W. St., additional, Sánchez, Pablo J., additional, Sass, Laura A., additional, Sattler, Carlos A., additional, Schulte, Danica J., additional, Schutze, Gordon E., additional, Seeborg, Filiz O., additional, Shapiro, Eugene D., additional, Shapiro, Nina L., additional, Shearer, William T., additional, Shehab, Ziad M., additional, Shenep, Jerry L., additional, Shields, W. Donald, additional, Shimizu-Cohen, Robyn, additional, Shulman, Stanford T., additional, Simos, Constantine, additional, Smith, Arnold L., additional, Soden, Jason S., additional, Staat, Mary Allen, additional, Starke, Jeffrey R., additional, Stechenberg, Barbara W., additional, Steinbach, William J., additional, Steinkuller, Paul G., additional, Stiehm, E. Richard, additional, Stovall, Stephanie H., additional, Suen, Jeffrey, additional, Sumaya, Ciro V., additional, Summer, Andrea P., additional, Swanson, Douglas S., additional, Tan, Tina Q., additional, Tanowitz, Herbert B., additional, Tesh, Robert B., additional, Toltzis, Philip, additional, Topazian, Richard G., additional, Tosi, Michael F., additional, Travassos da Rosa, Amelia P.A., additional, Tsai, Theodore F., additional, Valdez, Tulio A., additional, Vallejo, Jesus G., additional, Vanchiere, John A., additional, Vasconcelos, Pedro Fernando da C., additional, Velarde, Jorge J., additional, Versalovic, James, additional, Wald, Ellen R., additional, Walsh, Douglas S., additional, Walsh, Edward E., additional, Walsh, Thomas J., additional, Ward, Mark A., additional, Ward, Richard L., additional, Weinberg, Michelle, additional, Welliver, Robert C., additional, Wheeler, J. Gary, additional, White, A. Clinton, additional, Whitworth, Suzanne, additional, Wiedermann, Bernhard L., additional, Williams-Bouyer, Natalie, additional, Wittner, Murray, additional, Woods, Charles R., additional, Yen, Kimberly G., additional, Yogev, Ram, additional, Young, Edward J., additional, and Zaoutis, Theoklis E., additional

Published
2009
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12. Toddler suffers from emesis and weight loss

Author

Bekmezian, Arpi, Vargas, Jorge H., Ament, Marvin E., and Venick, Robert

Subjects
Achalasia -- Diagnosis, Achalasia -- Care and treatment, Achalasia -- Case studies, Achalasia -- Demographic aspects, Vomiting -- Causes of, Weight loss -- Causes of
Published
2010

14. Mutant Neurogenin-3 in Congenital Malabsorptive Diarrhea

Author

Wang, Jiafang, Cortina, Galen, Wu, S. Vincent, Tran, Robert, Cho, Jang-Hyeon, Tsai, Ming-Jer, Bailey, Travis J., Jamrich, Milan, Ament, Marvin E., Treem, William R., Hill, Ivor D., Vargas, Jorge H., Gershman, George, Farmer, Douglas G., Reyen, Laurie, and Martin, Martin G.

Published
2006

25. Transplantation/Digestive tract

Author

Durand, P., Jacquemin, E., Chardot, C., Iserin, F., Dousset, B., Devictor, D., Weiss, Irwin, Erian, Cherif, Ament, Marvin, Vargas, Jorge, McDiarmid, Sue, Brill, Judith, Le Pommelet, C., Debray, D., Sasbón J., Centeno M., Entin E., Acerenza M., Ciocca M., Goñi J., Bianco G., Weller G., Imventarza O., Ruza F., Calvo C., Dorao P. G., Filgueiras D., Alvarez E., Delgado M. A., Flores, J. Casado, Mora, E., García Teresa M. A., Azagra, A. Martínez, Serrano, A., Ibiza E., Abengochea A., Modesto V., Abengochea B., Arago J., Sanchis R., Varas R., Garcia E., Booker P. D., Prosser D. P., Franks R., Phuong, Kiel Dang, and Thanh, Hai Le

Published
1996
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30. Living-donor liver transplantation at UCLA

Author

Jurim, Oded, Shackleton, Christopher R., McDiarmid, Susan V., Martin, Paul, Shaked, Abraham, Millis, J. Michael, Imagawa, David K., Olthoff, Kim M., Maxfield, Anne, Pakrasi, Anita L., Melinek, Judy, Ament, Marvin, Vargas, Jorge, Golstein, Leonard I., and Busuttil, Ronald W.

Subjects
Donation of organs, tissues, etc. -- Methods, Liver -- Transplantation, Health
Abstract

Background: Living-donor (LD) liver transplantation has been developed as an alternative to overcome the shortage of cadaver donor organs for pediatric recipients. Patients and methods: We reviewed our experience with 9 LD transplants performed between August 25, 1993 and August 3, 1994. The median recipient age and weight were 13 months and 10 kilograms. Left lateral segments from parental donors, with aortic inflow via saphenous vein grafts, were used in all cases. Results: At a median follow-up of 160 days, all donors were alive and well. Recipient and graft survival were both 89%. Rates of hepatic artery thrombosis, portal vein thrombosis, biliary complications, and acute rejection were 22%, 11%, 11%, and 67%, respectively. Conclusions: Excellent outcome can be achieved with LD liver transplantation in small children with minimal donor risk. This procedure has the potential to emerge as the preferred treatment for pediatric liver transplant candidates for whom it is an option.

Published
1995

32. Lingual tonsil hypertrophy causing severe dysphagia: Treatment with plasma-mediated radiofrequency-based ablation (Coblation)

Author

Mowry, Sarah E., Ament, Marvin, and Shapiro, Nina L.

Subjects
Care and treatment, Complications and side effects, Usage, Case studies, Methods, Causes of, Health aspects, Deglutition disorders -- Causes of -- Case studies -- Care and treatment, Radiofrequency ablation -- Usage -- Methods, Tonsils -- Health aspects, Hypertrophy -- Care and treatment -- Complications and side effects
Abstract

Lingual tonsil hypertrophy is an uncommon cause of upper aerodigestive tract pathology. We present the case of a 17-year-old boy who developed severe dysphagia and subsequent weight loss as a [...]

Published
2010

34. Renal function of children receiving long-term parenteral nutrition

Author

Moukarzel, Adib A., Ament, Marvin E., Buchman, Alan, Dahlstrom, Karl Anders, and Vargas, Jorge

Subjects
Glomerular filtration rate -- Abnormalities, Kidney diseases -- Physiological aspects, Parenteral feeding -- Physiological aspects, Parenteral feeding -- Complications, Health
Abstract

Children suffering from severe gastrointestinal diseases are often unable to digest food or absorb nutrients. Total parenteral nutrition (TPN), or infusion of all nutrients intravenously, is often required to provide these children with adequate nutrition. Long-term TPN in adults has been associated with kidney damage. This study examined if kidney functioning is compromised in children receiving long-term TPN. Kidney functioning tests were performed on 13 children who had received TPN for an average of 7.9 years. Specifically, the glomerular filtration rate (GFR) was determined; this is the rate at which the kidneys filter the blood. The glomerular filtration rate averaged 65.5 milliliters per minute per 1.73 meters squared in these children, significantly below the normal level of 110 ml/min. A lower GFR rate was associated with longer-term TPN, but not with underlying disease. Creatinine clearance was also significantly reduced in the TPN-dependent children. Kidney architecture appeared normal in all 13 children, but kidney size was significantly decreased in 6 of the children. Kidney size did not correlate with GFR. The results indicated that long-term TPN in children adversely affects kidney function. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

35. Liver transplantation in children

Author

Busuttil, Ronald W., Seu, Philip, Millis, J. Micheal, Olthoff, Kim M., Hiatt, Jonathan R., Milewicz, Allen, Nuesse, Barbara, El-Khoury, George, Raybould, David, Nyerges, Anthony, Vargas, Jorge, McDiarmid, Sue, Berquist, William, Harrison, Rick, and Ament, Marvin

Subjects
Liver failure -- Care and treatment, Transplantation of organs, tissues, etc. in children -- Prognosis, Liver -- Transplantation, Surgery -- Case studies, Health
Abstract

Liver transplantation is an accepted treatment for end-stage liver disease. Although the liver transplant was originally developed for use in children, most transplants are performed in adults and few centers have evaluated significant numbers of pediatric liver transplants. From January 1984 through September 1988, one center performed 123 liver transplants in 103 children; this represented 39 percent of the liver transplants at the center. Ten percent of the children waiting for transplantation died before surgery could be performed; about half the deaths were due to lack of a donor and half were due to progression of liver disease. An analysis of the 123 pediatric transplants was undertaken to identify factors associated with favorable results. The average age of the children was 5.2 years, but 48 percent were under 3 years of age. Eighty-two children (80 percent) are still alive, and there were no deaths at surgery. Of the 21 deaths that have occurred, 86 percent took place within five months of surgery, and only one death occurred more than a year after transplant. The survival rate of patients operated on before one year of age was 65 percent, compared with 85 percent for those who were more than one year at the time of transplant. Nineteen children (18 percent) underwent retransplantation and experienced a 58 percent survival rate. These results suggest that among children with all types of end-stage liver disease, transplantation should be considered early. Factors associated with improved survival include precise technique, aggressive use of retransplantation when indicated, prophylactic (preventive) treatment against fungal infection, and judicious use of therapy to suppress the immune system (and thereby prevent rejection of the transplanted liver). In addition, it is recommended that a successful pediatric liver transplantation program include functional rehabilitation. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

38. Visual function in patients undergoing long-term total parenteral nutrition

Author

Vinton, Nancy E., Heckenlively, John R., Laidlaw, Stewart A., Martin, Diedre A., Foxman, Scott R., Ament, Marvin E., and Kopple, Joel D.

Subjects
Vision -- Health aspects, Parenteral feeding -- Physiological aspects, Food/cooking/nutrition, Health
Abstract

Nutritional deficiencies can lead to dysfunction of one or more body systems, including vision. Patients who undergo long-term total parenteral nutrition (TPN; feeding by intravenous means only) are particularly subject to nutritional disorders, either because of the underlying disorder that required treatment by TPN, generally poor nutrition during the disease state, or because TPN may lead to an unacknowledged lack or excess of particular nutrients. Visual function was assessed in 12 children and 27 adults who were medically stable and being treated with long-term TPN due to a variety of gastrointestinal disorders. Inspection of the retina showed granularity of tissue, but the prevalence of these differences in pigmentation was not significant. Many of the subjects, about one half of children and one third of adults, had one or more abnormalities in retinal function associated with either rod or cone cells (which differ in their participation in night and color vision). Of the nutrients which affect vision, zinc and vitamin E levels were normal, while vitamin A was high in 10 adults. The element selenium was low in all 10 children who were tested and in 17 of 21 adults who were tested. Levels of two important fats, linolenic and linoleic acids, were also in the low range, as was taurine, an amino acid. However, the only nutrients that correlated with retinal function were zinc and vitamin E. Duration of TPN therapy did not correlate with levels of nutrients or retinal function. Visual acuity was normal in all but two patients. The relationship between blood and tissue levels of these nutrients is unclear, and further study of the association between these nutrients, TPN, and visual function is needed. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1990

40. Long-term quantitative results following fundoplication and antroplasty for gastroesophageal reflux and delayed gastric emptying in children

Author

Dunn, James C.Y., Lai, Ellis C.K., Webber, Milo M., Ament, Marvin E., and Fonkalsrud, Eric W.

Subjects
Gastroesophageal reflux in children, Fundoplication -- Evaluation, Health
Abstract

BACKGROUND: The operative management of children with combined gastroesophageal reflux and delayed gastric emptying is controversial. This study measures the long-term follow-up of gastric emptying in children who have undergone gastroesophageal fundoplication combined with antroplasty. METHODS: Fifteen randomly selected children with gastroesophageal reflux and scintigraphically demonstrated delayed gastric emptying underwent fundoplication and antroplasty. Each patient had another gastric emptying scintigraphic study performed an average of 3.6 years postoperation. RESULTS: All patients reported improvement of their symptoms compared with before the operation, and none required further medical therapy for gastroesophageal reflux or experienced dumping syndrome. Eleven of the 15 patients had significant long-term improvement of their gastric emptying postoperatively. The mean percent of isotope meal remaining in the stomach a 90 minutes improved from 72% preoperatively to 40% postoperatively (P = 0.0005). CONCLUSIONS: Gastric emptying in children with gastroesophageal reflux and delayed gastric emptying is significantly improved for several years in three-fourths of patients after fundoplication and antroplasty. Fundoplication and concomitant antroplasty are recommended for symptomatic children with documented gastroesophageal reflux and delayed gastric emptying. Am J Surg. 1998;175:2729. [C] 1998 by Excerpta Medica, Inc.

Published
1998

41. Possible link between zinc intake and colon cancer

Author

Song, Moon K., Heng, Madalene C.Y., Rolandelli, Rolando, Ament, Marvin E., and Heng, Ming K.

Subjects
Colorectal cancer -- Health aspects, Zinc in the body -- Physiological aspects, Health
Published
1993

47. Long-Term Nutrition and Predictors of Growth and Weight Gain Following Pediatric Intestinal Transplantation

Author

Venick, Robert S., primary, Wozniak, Laura J., additional, Colangelo, Joanie, additional, Beckwith, Patty, additional, Reyen, Laurie, additional, Esmailian, Yvonne A., additional, McDiarmid, Sue V., additional, Vargas, Jorge H., additional, Ament, Marvin E., additional, Busuttil, Ronald W., additional, and Farmer, Douglas G., additional

Published
2011
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