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1. Hematopoietic stem cell transplantation for DLBCL: a report from the European Society for Blood and Marrow Transplantation on more than 40,000 patients over 32 years

Author

Berning, Philipp, Fekom, Mathilde, Ngoya, Maud, Goldstone, Anthony H., Dreger, Peter, Montoto, Silvia, Finel, Hervé, Shumilov, Evgenii, Chevallier, Patrice, Blaise, Didier, Strüssmann, Tim, Carpenter, Ben, Forcade, Edouard, Castilla-Llorente, Cristina, Trneny, Marek, Ghesquieres, Hervé, Capria, Saveria, Thieblemont, Catherine, Blau, Igor Wolfgang, Meijer, Ellen, Broers, Annoek E. C., Huynh, Anne, Caillot, Denis, Rösler, Wolf, Nguyen Quoc, Stephanie, Bittenbring, Jörg, Nagler, Arnon, Galimard, Jacques-Emmanuel, Glass, Bertram, Sureda, Anna, and Schmitz, Norbert

Published
2024
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3. Prader-Willi Syndrome: guidance for children and transition into adulthood

Author

Shaikh, M Guftar, primary, Barrett, Tim, additional, Bridges, Nicola, additional, Chung, Robin, additional, Gevers, Evelien, additional, Goldstone, Anthony P, additional, Holland, Anthony, additional, Kanumakala, Shankar, additional, Krone, Ruth E, additional, Kyriakou, Andreas, additional, Livesey, E Anne, additional, Lucas-Herald, Angela, additional, Meade, Christina, additional, Passmore, Susan, additional, Roche, Edna, additional, Smith, Chris, additional, and Soni, Sarita, additional

Published
2024
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5. The effect of a duodenal-jejunal bypass liner on lipid profile and blood concentrations of long chain polyunsaturated fatty acids

Author

Glaysher, Michael A., Ward, James, Aldhwayan, Madhawi, Ruban, Aruchuna, Prechtl, Christina Gabriele, Fisk, Helena L., Chhina, Navpreet, Al-Najim, Werd, Smith, Claire, Klimowska-Nassar, Natalia, Johnson, Nicholas, Falaschetti, Emmanuela, Goldstone, Anthony P., Miras, Alexander Dimitri, Byrne, James P., Calder, Philip C., and Teare, Julian P.

Published
2021
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8. LEAP2 changes with body mass and food intake in humans and mice

Author

Mani, Bharath K., Puzziferri, Nancy, He, Zhenyan, Rodriguez, Juan A., Osborne- Lawrence, Sherri, Metzger, Nathan P., Chhina, Navpreet, Gaylinn, Bruce, Thorner, Michael O., Thomas, E. Louise, Bell, Jimmy D., Williams, Kevin W., Goldstone, Anthony P., and Zigman, Jeffrey M.

Subjects
Obesity, Neuropeptide Y, Bariatric surgery, Type 2 diabetes, Fasting, Body weight, Blood glucose, Type 1 diabetes, Neurons, Surgery, Diabetes mellitus, Phenotypes, Peptides, Advertising executives, Glucose, Gastric bypass, Health care industry, University of London. Imperial College of Science and Technology
Abstract

Acyl-ghrelin administration increases food intake, body weight, and blood glucose. In contrast, mice lacking ghrelin or ghrelin receptors (GHSRs) exhibit life-threatening hypoglycemia during starvation-like conditions, but do not consistently exhibit overt metabolic phenotypes when given ad libitum food access. These results, and findings of ghrelin resistance in obese states, imply nutritional state dependence of ghrelin's metabolic actions. Here, we hypothesized that liver-enriched antimicrobial peptide-2 (LEAP2), a recently characterized endogenous GHSR antagonist, blunts ghrelin action during obese states and postprandially. To test this hypothesis, we determined changes in plasma LEAP2 and acyl-ghrelin due to fasting, eating, obesity, Roux-en-Y gastric bypass (RYGB), vertical sleeve gastrectomy (VSG), oral glucose administration, and type 1 diabetes mellitus (T1DM) using humans and/or mice. Our results suggest that plasma LEAP2 is regulated by metabolic status: its levels increased with body mass and blood glucose and decreased with fasting, RYGB, and in postprandial states following VSG. These changes were mostly opposite of those of acyl-ghrelin. Furthermore, using electrophysiology, we showed that LEAP2 both hyperpolarizes and prevents acyl-ghrelin from activating arcuate NPY neurons. We predict that the plasma LEAP2/acyl-ghrelin molar ratio may be a key determinant modulating acyl-ghrelin activity in response to body mass, feeding status, and blood glucose., Introduction Ghrelin is a mainly stomach-derived hormone that helps the body respond to changes in metabolic state by engaging growth hormone secretagogue receptors (GHSRs, also known as ghrelin receptors) expressed [...]

Published
2019
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9. Nutritional phases in Prader–Willi syndrome

Author

Miller, Jennifer L, Lynn, Christy H, Driscoll, Danielle C, Goldstone, Anthony P, Gold, June‐Anne, Kimonis, Virginia, Dykens, Elisabeth, Butler, Merlin G, Shuster, Jonathan J, and Driscoll, Daniel J

Subjects
Pediatric, Clinical Research, Nutrition, Prevention, Rare Diseases, Behavioral and Social Science, Obesity, Cancer, Oral and gastrointestinal, Stroke, Metabolic and endocrine, Cardiovascular, Cohort Studies, Energy Intake, Failure to Thrive, Humans, Longitudinal Studies, Nutritional Status, Prader-Willi Syndrome, Prader-Willi, nutrition, appetite, weight gain, Genetics, Clinical Sciences
Abstract

Prader-Willi syndrome (PWS) is a complex neurobehavioral condition which has been classically described as having two nutritional stages: poor feeding, frequently with failure to thrive (FTT) in infancy (Stage 1), followed by hyperphagia leading to obesity in later childhood (Stage 2). We have longitudinally followed the feeding behaviors of individuals with PWS and found a much more gradual and complex progression of the nutritional phases than the traditional two stages described in the literature. Therefore, this study characterizes the growth, metabolic, and laboratory changes associated with the various nutritional phases of PWS in a large cohort of subjects. We have identified a total of seven different nutritional phases, with five main phases and sub-phases in phases 1 and 2. Phase 0 occurs in utero, with decreased fetal movements and growth restriction compared to unaffected siblings. In phase 1 the infant is hypotonic and not obese, with sub-phase 1a characterized by difficulty feeding with or without FTT (ages birth-15 months; median age at completion: 9 months). This phase is followed by sub-phase 1b when the infant grows steadily along a growth curve and weight is increasing at a normal rate (median age of onset: 9 months; age quartiles 5-15 months). Phase 2 is associated with weight gain-in sub-phase 2a the weight increases without a significant change in appetite or caloric intake (median age of onset 2.08 years; age quartiles 20-31 months;), while in sub-phase 2b the weight gain is associated with a concomitant increased interest in food (median age of onset: 4.5 years; quartiles 3-5.25 years). Phase 3 is characterized by hyperphagia, typically accompanied by food-seeking and lack of satiety (median age of onset: 8 years; quartiles 5-13 years). Some adults progress to phase 4 which is when an individual who was previously in phase 3 no longer has an insatiable appetite and is able to feel full. Therefore, the progression of the nutritional phases in PWS is much more complex than previously recognized. Awareness of the various phases will aid researchers in unraveling the pathophysiology of each phase and provide a foundation for developing rational therapies. Counseling parents of newly diagnosed infants with PWS as to what to expect with regard to these nutritional phases may help prevent or slow the early-onset of obesity in this syndrome.

Published
2011

11. Diazoxide choline extended‐release tablet in people with Prader‐Willi syndrome: results from long‐term open‐label study.

Author

Miller, Jennifer L., Gevers, Evelien, Bridges, Nicola, Yanovski, Jack A., Salehi, Parisa, Obrynba, Kathryn S., Felner, Eric I., Bird, Lynne M., Shoemaker, Ashley H., Angulo, Moris, Butler, Merlin G., Stevenson, David, Goldstone, Anthony P., Wilding, John, Lah, Melissa, Shaikh, M. Guftar, Littlejohn, Elizabeth, Abuzzahab, M. Jennifer, Fleischman, Amy, and Hirano, Patricia

Subjects
PRADER-Willi syndrome, LEAN body mass, BEHAVIORAL assessment, CHOLINE, BURDEN of care, SERVICES for caregivers
Abstract

Objective: This study assessed the effect of 1‐year administration of diazoxide choline extended‐release tablet (DCCR) on hyperphagia and other complications of Prader‐Willi syndrome (PWS). Methods: The authors studied 125 participants with PWS, age ≥ 4 years, who were enrolled in the DESTINY PWS Phase 3 study and who received DCCR for up to 52 weeks in DESTINY PWS and/or its open‐label extension. The primary efficacy endpoint was Hyperphagia Questionnaire for Clinical Trials (HQ‐CT) score. Other endpoints included behavioral assessments, body composition, hormonal measures, and safety. Results: DCCR administration resulted in significant improvements in HQ‐CT (mean [SE] −9.9 [0.77], p < 0.0001) and greater improvements in those with more severe baseline hyperphagia (HQ‐CT > 22). Improvements were seen in aggression, anxiety, and compulsivity (all p < 0.0001). There were reductions in leptin, insulin, and insulin resistance, as well as a significant increase in adiponectin (all p < 0.004). Lean body mass was increased (p < 0.0001). Disease severity was reduced as assessed by clinician and caregiver (both p < 0.0001). Common treatment‐emergent adverse events included hypertrichosis, peripheral edema, and hyperglycemia. Adverse events infrequently resulted in discontinuation (7.2%). Conclusions: DCCR administration to people with PWS was well tolerated and associated with broad‐ranging improvements in the syndrome. Sustained administration of DCCR has the potential to reduce disease severity and the burden of care for families. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review

Author

Pellikaan, Karlijn, primary, Nguyen, Naomi Q C, additional, Rosenberg, Anna G W, additional, Coupaye, Muriel, additional, Goldstone, Anthony P, additional, Høybye, Charlotte, additional, Markovic, Tania, additional, Grugni, Graziano, additional, Crinò, Antonino, additional, Caixàs, Assumpta, additional, Poitou, Christine, additional, Corripio, Raquel, additional, Nieuwenhuize, Rosa M, additional, van der Lely, Aart J, additional, and de Graaff, Laura C G, additional

Published
2023
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15. Malignancies in Prader-Willi Syndrome:Results From a Large International Cohort and Literature Review

Author

Pellikaan, Karlijn, Nguyen, Naomi Q.C., Rosenberg, Anna G.W., Coupaye, Muriel, Goldstone, Anthony P., Høybye, Charlotte, Markovic, Tania, Grugni, Graziano, Crinò, Antonino, Caixàs, Assumpta, Poitou, Christine, Corripio, Raquel, Nieuwenhuize, Rosa M., van der Lely, Aart J., de Graaff, Laura C.G., Pellikaan, Karlijn, Nguyen, Naomi Q.C., Rosenberg, Anna G.W., Coupaye, Muriel, Goldstone, Anthony P., Høybye, Charlotte, Markovic, Tania, Grugni, Graziano, Crinò, Antonino, Caixàs, Assumpta, Poitou, Christine, Corripio, Raquel, Nieuwenhuize, Rosa M., van der Lely, Aart J., and de Graaff, Laura C.G.

Abstract

CONTEXT: Prader-Willi syndrome (PWS) is a complex disorder combining hypothalamic dysfunction, neurodevelopmental delay, hypotonia, and hyperphagia with risk of obesity and its complications. PWS is caused by the loss of expression of the PWS critical region, a cluster of paternally expressed genes on chromosome 15q11.2-q13. As life expectancy of patients with PWS increases, age-related diseases like malignancies might pose a new threat to health. OBJECTIVE: To investigate the prevalence and risk factors of malignancies in patients with PWS and to provide clinical recommendations for cancer screening. METHODS: We included 706 patients with PWS (160 children, 546 adults). We retrospectively collected data from medical records on past or current malignancies, the type of malignancy, and risk factors for malignancy. Additionally, we searched the literature for information about the relationship between genes on chromosome 15q11.2-q13 and malignancies. RESULTS: Seven adults (age range, 18-55 years) had been diagnosed with a malignancy (acute lymphoblastic leukemia, intracranial hemangiopericytoma, melanoma, stomach adenocarcinoma, biliary cancer, parotid adenocarcinoma, and colon cancer). All patients with a malignancy had a paternal 15q11-13 deletion. The literature review showed that several genes on chromosome 15q11.2-q13 are related to malignancies. CONCLUSION: Malignancies are rare in patients with PWS. Therefore, screening for malignancies is only indicated when clinically relevant symptoms are present, such as unexplained weight loss, loss of appetite, symptoms suggestive of paraneoplastic syndrome, or localizing symptoms. Given the increased cancer risk associated with obesity, which is common in PWS, participation in national screening programs should be encouraged.

Published
2023

21. Postprandial Increases in Liver-Gut Hormone LEAP2 Correlate with Attenuated Eating Behavior in Adults Without Obesity.

Author

Bhargava, Raghav, Luur, Sandra, Flores, Marcela Rodriguez, Emini, Mimoza, Prechtl, Christina G, and Goldstone, Anthony P

Subjects
FOOD habits, FUNCTIONAL magnetic resonance imaging, PREFRONTAL cortex, FOOD consumption, CINGULATE cortex
Abstract

Background The novel liver-gut hormone liver-expressed antimicrobial peptide-2 (LEAP2) is a centrally acting inverse agonist, and competitive antagonist of orexigenic acyl ghrelin (AG), at the GH secretagogue receptor, reducing food intake in rodents. In humans, the effects of LEAP2 on eating behavior and mechanisms behind the postprandial increase in LEAP2 are unclear, though this is reciprocal to the postprandial decrease in plasma AG. Methods Plasma LEAP2 was measured in a secondary analysis of a previous study. Twenty-two adults without obesity attended after an overnight fast, consuming a 730-kcal meal without or with subcutaneous AG administration. Postprandial changes in plasma LEAP2 were correlated with postprandial changes in appetite, high-energy (HE) or low-energy (LE) food cue reactivity using functional magnetic resonance imaging, ad libitum food intake, and plasma/serum AG, glucose, insulin, and triglycerides. Results Postprandial plasma LEAP2 increased by 24.5% to 52.2% at 70 to 150 minutes, but was unchanged by exogenous AG administration. Postprandial increases in LEAP2 correlated positively with postprandial decreases in appetite, and cue reactivity to HE/LE and HE food in anteroposterior cingulate cortex, paracingulate cortex, frontal pole, and middle frontal gyrus, with similar trend for food intake. Postprandial increases in LEAP2 correlated negatively with body mass index, but did not correlate positively with increases in glucose, insulin, or triglycerides, nor decreases in AG. Conclusions These correlational findings are consistent with a role for postprandial increases in plasma LEAP2 in suppressing human eating behavior in adults without obesity. Postprandial increases in plasma LEAP2 are unrelated to changes in plasma AG and the mediator(s) remain uncertain. [ABSTRACT FROM AUTHOR]

Published
2023
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27. Effect of Obesity Surgery on Taste

Author

Al-Alsheikh, Alhanouf S., primary, Alabdulkader, Shahd, additional, Johnson, Brett, additional, Goldstone, Anthony P., additional, and Miras, Alexander Dimitri, additional

Published
2022
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30. Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion

Author

Pellikaan, Karlijn, primary, Ben Brahim, Yassine, additional, Rosenberg, Anna G. W., additional, Davidse, Kirsten, additional, Poitou, Christine, additional, Coupaye, Muriel, additional, Goldstone, Anthony P., additional, Høybye, Charlotte, additional, Markovic, Tania P., additional, Grugni, Graziano, additional, Crinò, Antonino, additional, Caixàs, Assumpta, additional, Eldar-Geva, Talia, additional, Hirsch, Harry J., additional, Gross-Tsur, Varda, additional, Butler, Merlin G., additional, Miller, Jennifer L., additional, van der Kuy, Paul-Hugo M., additional, van den Berg, Sjoerd A. A., additional, Visser, Jenny A., additional, van der Lely, Aart J., additional, and de Graaff, Laura C. G., additional

Published
2021
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31. Seeds of neuroendocrine doubt

Author

Feeney, Claire, Scott, Gregory P., Cole, James H., Sastre, Magdalena, Goldstone, Anthony P., and Leech, Robert

Subjects
Neuroendocrine tumors -- Research -- Health aspects, Creutzfeldt-Jakob disease -- Research -- Health aspects -- Care and treatment, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

The possibility of human-to-human transmission of Alzheimer's disease has not been considered until recently. A landmark study, published in September 2015 in Nature, reports the probable seeding of amyloid-[beta] (A[beta]; [...]

Published
2016
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32. Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers

Author

Hernández-Ramírez, Laura C., Gabrovska, Plamena, Dénes, Judit, Stals, Karen, Trivellin, Giampaolo, Tilley, Daniel, Ferraù, Francesco, Evanson, Jane, Ellard, Sian, Grossman, Ashley B., Roncaroli, Federico, Gadelha, Mônica R., Korbonits, Márta, Agha, Amar, Akker, Scott A., Aflorei, Elena D., Alföldi, Sándor, Arlt, Wiebke, Atkinson, Brew, Aulinas-Masó, Anna, Aylwin, Simon J., Backeljauw, Philippe F., Badiu, Corin, Baldeweg, Stephanie, Bano, Gul, Barkan, Ariel, Barwell, Julian, Bernal-González, Carmen, Besser, G. Michael, Bevan, John S., Blair, Jo, Bouloux, Pierre, Bradley, Lisa, Buchfelder, Michael, Cakir, Mehtap, Canham, Natalie, Carroll, Paul, Chahal, Harvinder S., Cheetham, Tim, Chentli, Farida, Clayton, Richard N., Cohen, Mark, Cole, Trevor, Courtney, Hamish, Crowne, Elizabeth, Cuthbertson, Daniel, Dal, Jacob, Dalantaeva, Nadezhda, Daousi, Christina, Darzy, Ken, Dattani, Mehul, Davies, Justin H., Davis, Julian, De Castro, Margaret, De Marinis, Laura, Drake, William, Dutta, Pinaki, Dzeranova, Larisa, Edén-Engström, Britt, Eeles, Rosalind, Elfving, Maria, Elston, Marianne, Emmerson, Louise, Fersht, Naomi, Fica, Simona, Fischli, Stefan, Flanagan, Daniel, Fleseriu, Maria, Freda, Pamela U., Friedman, Theodore, Frohman, Lawrence A., Gallego, Patricia, Gevers, Evelien, Gláz, Edit, Goldman, James A., Goldstone, Anthony P., Goth, Miklos, Greenhalgh, Lynn, Grieve, Joan, Guitelman, Mirtha, Gürlek, Alper, Gurnell, Mark, Horvath, Katalin, Howlett, Trevor A., Höybye, Charlotte, Hunter, Steven, Iacovazzo, Donato, Igaz, Peter, Inder, Warrick J., Iwata, Takeo, Izatt, Louise, Jagadeesh, Sujatha, Kaltsas, Gregory, Kaplan, Felicity, Karavitaki, Niki, Kastelan, Darko, Katz, Michelle, Kearney, Tara, Khoo, Bernard, Kiraly-Borri, Cathy, Knispelis, Robertas, Kovács, Gábor László, Kumar, Ajith V., Laws, Edward R., Jr, Lechan, Ronald M., Levy, Miles J., Lewandowski, Krzysztof, Lo, Janet, Maartens, Niki, Matsuno, Akira, McGowan, Barbara, McQuaid, Siobhán E., Medic-Stojanoska, Milica, Mercado-Atri, Moisés, Mezősi, Emese, Miljic, Dragana, Miller, Karen K., Modenesi, Silvia, Molitch, Mark E., Monson, John, Morris, Damian G., Morrison, Patrick J., Munir, Alia, Murray, Robert D., Musat, Madalina, Musolino, Nina, Nachtigall, Lisa, Newell-Price, John, Ogilvie, Arla, Orme, Steve M., Paşcanu, Ionela, Patócs, Attila, Patterson, Catherine, Pearce, Simon H., Pecori Giraldi, Francesca, Pfeifer, Marija, Popovic, Vera, Poplawski, Nicola, Powell, Michael, Pullan, Peter, Quinton, Richard, Radian, Serban, Randeva, Harpal, Ribeiro-Oliveira, Antônio, Jr, Rodd, Celia, Ryan, Fiona, Salvatori, Roberto, Schöfl, Christof, Shears, Debbie, Shotliff, Kevin, Soares, Beatriz S., Somasundaram, Noel, Spada, Anna, Sperber, James, Spoudeas, Helen A., Stewart, Susan, Storr, Helen, Strasburger, Christian, Street, Maria Elisabeth, Swords, Francesca, Thakker, Rajesh V., Tham, Elaine, Thompson, Chris, Thorner, Dr Michael O., Tóth, Miklós, Trainer, Peter J., Tsagarakis, Stylianos, Tzanela, Marinella, Vadász, János, Vaks, Vladimir, Verkauskiene, Rasa, Wass, John A., Webb, Susan M., Weber, Astrid, Yamada, Shozo, Yarman, Sema, Yeoh, Philip, Yoshimoto, Katsuhiko, and Zammitt, Nicola N.

Published
2015

33. Circulating Pancreatic Polypeptide Concentrations Predict Visceral and Liver Fat Content

Author

Sam, Amir H., Sleeth, Michelle L., Thomas, E. Louise, Ismail, Nurhafzan A., Mat Daud, Norlida, Chambers, Edward, Shojaee-Moradie, Fariba, Umpleby, Margot, Goldstone, Anthony P., Le Roux, Carel W., Bech, Paul, Busbridge, Mark, Laurie, Rosemary, Cuthbertson, Daniel J., Buckley, Adam, Ghatei, Mohammad A., Bloom, Stephen R., Frost, Gary S., Bell, Jimmy D., and Murphy, Kevin G.

Published
2015

34. Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi--like features

Author

Bonnefond, Amelie, Raimondo, Anne, Stutzmann, Fanny, Ghoussaini, Maya, Ramachandrappa, Shwetha, Bersten, David C., Durand, Emmanuelle, Vatin, Vincent, Balkau, Beverley, Lantieri, Olivier, Raverdy, Violeta, Pattou, Francois, Van Hul, Wim, Van Gaal, Luc, Peet, Daniel J., Weill, Jacques, Miller, Jennifer L., Horber, Fritz, Goldstone, Anthony P., Driscoll, Daniel J., Bruning, John B., Meyre, David, Whitelaw, Murray L., and Froguel, Philippe

Subjects
Gene mutations -- Observations, Obesity in children -- Genetic aspects, Prader-Willi syndrome -- Genetic aspects -- Complications and side effects -- Physiological aspects, Health care industry
Abstract

Sim1 haploinsufficiency in mice induces hyperphagic obesity and developmental abnormalities of the brain. In humans, abnormalities in chromosome 6q16, a region that includes SIM1, were reported in obese children with [...]

Published
2013
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35. Hypothalamic Obesity in Children

Author

Bereket, Abdullah, primary, Kiess, Wieland, additional, Lustig, Robert H., additional, Muller, Hermann L., additional, Goldstone, Anthony P., additional, Weiss, Ram, additional, Yavuz, Yunus, additional, and Hochberg, Ze'ev, additional

Published
2015
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36. Hypogonadism in Adult Males with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion

Author

Pellikaan, Karlijn, primary, Ben Brahim, Yassine, additional, Rosenberg, Anna G. W., additional, Davidse, Kirsten, additional, Poitou, Christine, additional, Coupaye, Muriel, additional, Goldstone, Anthony P., additional, Høybye, Charlotte, additional, Markovic, Tania P., additional, Grugni, Graziano, additional, Crinò, Antonino, additional, Caixàs, Assumpta, additional, Eldar-Geva, Talia, additional, Hirsch, Harry J., additional, Gross-Tsur, Varda, additional, Butler, Merlin G., additional, Miller, Jennifer L., additional, van den Berg, Sjoerd A. A., additional, van der Lely, Aart J., additional, and de Graaff, Laura C. G., additional

Published
2021
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39. Hyperprolactinemia in Adults with Prader-Willi Syndrome

Author

Sjöström, Anna, primary, Pellikaan, Karlijn, additional, Sjöström, Henrik, additional, Goldstone, Anthony P., additional, Grugni, Graziano, additional, Crinò, Antonino, additional, De Graaff, Laura C. G., additional, and Höybye, Charlotte, additional

Published
2021
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40. Hyponatremia in Children and Adults with Prader–Willi Syndrome: A Survey Involving Seven Countries

Author

Coupaye, Muriel, primary, Pellikaan, Karlijn, additional, Goldstone, Anthony P., additional, Crinò, Antonino, additional, Grugni, Graziano, additional, Markovic, Tania P., additional, Høybye, Charlotte, additional, Caixàs, Assumpta, additional, Mosbah, Helena, additional, De Graaff, Laura C. G., additional, Tauber, Maithé, additional, and Poitou, Christine, additional

Published
2021
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44. Obese patients after gastric bypass surgery have lower brain-hedonic responses to food than after gastric banding

Author

Scholtz, Samantha, Miras, Alexander D, Chhina, Navpreet, Prechtl, Christina G, Sleeth, Michelle L, Daud, Norlida M, Ismail, Nurhafzan A, Durighel, Giuliana, Ahmed, Ahmed R, Olbers, Torsten, Vincent, Royce P, Alaghband-Zadeh, Jamshid, Ghatei, Mohammad A, Waldman, Adam D, Frost, Gary S, Bell, Jimmy D, le Roux, Carel W, and Goldstone, Anthony P

Published
2014
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45. Duodenal-Jejunal Bypass Liner for the management of Type 2 Diabetes Mellitus and Obesity

Author

Ruban, Aruchuna, primary, Miras, Alexander D., additional, Glaysher, Michael A., additional, Goldstone, Anthony P., additional, Prechtl, Christina G., additional, Johnson, Nicholas, additional, Chhina, Navpreet, additional, Al-Najim, Werd, additional, Aldhwayan, Madhawi, additional, Klimowska-Nassar, Natalia, additional, Smith, Claire, additional, Lord, Joanne, additional, Li, Jia V., additional, Flores, Lilliam, additional, Al-Lababidi, Moaz, additional, Dimitriadis, Georgios K., additional, Patel, Mayank, additional, Moore, Michael, additional, Chahal, Harvinder, additional, Ahmed, Ahmed R., additional, Cousins, Jonathan, additional, Aldubaikhi, Ghadah, additional, Glover, Ben, additional, Falaschetti, Emanuela, additional, Ashrafian, Hutan, additional, Roux, Carel W. le, additional, Darzi, Ara, additional, Byrne, James P., additional, and Teare, Julian P., additional

Published
2021
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46. Hypogonadism in women with prader-willi syndrome— clinical recommendations based on a dutch cohort study, review of the literature and an international expert panel discussion

Author

Pellikaan, Karlijn, Brahim, Yassine Ben, Rosenberg, Anna G.W., Davidse, Kirsten, Poitou, Christine, Coupaye, Muriel, Goldstone, Anthony P., Høybye, Charlotte, Markovic, Tania P., Grugni, Graziano, Crinò, Antonino, Caixàs, Assumpta, Eldar-Geva, Talia, Hirsch, Harry J., Gross-Tsur, Varda, Butler, Merlin G., Miller, Jennifer L., van der Kuy, Paul Hugo M., van den Berg, Sjoerd A.A., Visser, Jenny A., van der Lely, Aart J., de Graaff, Laura C.G., Pellikaan, Karlijn, Brahim, Yassine Ben, Rosenberg, Anna G.W., Davidse, Kirsten, Poitou, Christine, Coupaye, Muriel, Goldstone, Anthony P., Høybye, Charlotte, Markovic, Tania P., Grugni, Graziano, Crinò, Antonino, Caixàs, Assumpta, Eldar-Geva, Talia, Hirsch, Harry J., Gross-Tsur, Varda, Butler, Merlin G., Miller, Jennifer L., van der Kuy, Paul Hugo M., van den Berg, Sjoerd A.A., Visser, Jenny A., van der Lely, Aart J., and de Graaff, Laura C.G.

Abstract

Prader-Willi syndrome (PWS) is a rare neuroendocrine genetic syndrome. Characteristics of PWS include hyperphagia, hypotonia, and intellectual disability. Pituitary hormone deficiencies, caused by hypothalamic dysfunction, are common and hypogonadism is the most prevalent. Untreated hypogonadism can cause osteoporosis, which is already an important issue in PWS. Therefore, timely detection and treatment of hypogonadism is crucial. To increase understanding and prevent undertreatment, we (1) performed a cohort study in the Dutch PWS population, (2) thoroughly reviewed the literature on female hypogonadism in PWS and (3) provide clinical recommendations on behalf of an international expert panel. For the cohort study, we retrospectively collected results of a systematic health screening in 64 female adults with PWS, which included a medical questionnaire, medical file search, medical interview, physical examination and biochemical measurements. Our data show that hypogonadism is frequent in females with PWS (94%), but is often undiagnosed and untreated. This could be related to unfamiliarity with the syndrome, fear of behavioral changes, hygienic concerns, or drug interactions. To prevent underdiagnosis and undertreatment, we provide practical recommendations for the screening and treatment of hypogonadism in females with PWS.

Published
2021

47. Hypogonadism in adult males with prader-willi syndrome—clinical recommendations based on a dutch cohort study, review of the literature and an international expert panel discussion

Author

Pellikaan, Karlijn, Brahim, Yassine Ben, Rosenberg, Anna G.W., Davidse, Kirsten, Poitou, Christine, Coupaye, Muriel, Goldstone, Anthony P., Høybye, Charlotte, Markovic, Tania P., Grugni, Graziano, Crinò, Antonino, Caixàs, Assumpta, Eldar-Geva, Talia, Hirsch, Harry J., Gross-Tsur, Varda, Butler, Merlin G., Miller, Jennifer L., van den Berg, Sjoerd A.A., van der Lely, Aart J., de Graaff, Laura C.G., Pellikaan, Karlijn, Brahim, Yassine Ben, Rosenberg, Anna G.W., Davidse, Kirsten, Poitou, Christine, Coupaye, Muriel, Goldstone, Anthony P., Høybye, Charlotte, Markovic, Tania P., Grugni, Graziano, Crinò, Antonino, Caixàs, Assumpta, Eldar-Geva, Talia, Hirsch, Harry J., Gross-Tsur, Varda, Butler, Merlin G., Miller, Jennifer L., van den Berg, Sjoerd A.A., van der Lely, Aart J., and de Graaff, Laura C.G.

Abstract

Prader–Willi syndrome (PWS) is a complex genetic syndrome characterized by hyper-phagia, intellectual disability, hypotonia and hypothalamic dysfunction. Adults with PWS often have hormone deficiencies, hypogonadism being the most common. Untreated male hypogonadism can aggravate PWS-related health issues including muscle weakness, obesity, osteoporosis, and fatigue. Therefore, timely diagnosis and treatment of male hypogonadism is important. In this article, we share our experience with hypogonadism and its treatment in adult males with PWS and present a review of the literature. In order to report the prevalence and type of hypogonadism, treatment regimen and behavioral issues, we retrospectively collected data on medical interviews, physical examinations, biochemical measurements and testosterone replacement therapy (TRT) in 57 Dutch men with PWS. Fifty-six (98%) of the patients had either primary, central or combined hypogonadism. Untreated hypogonadism was associated with higher body mass index and lower hemoglobin concentrations. TRT was complicated by behavioral challenges in one third of the patients. Undertreatment was common and normal serum testosterone levels were achieved in only 30% of the patients. Based on the Dutch cohort data, review of the literature and an international expert panel discussion, we provide a practical algorithm for TRT in adult males with PWS in order to prevent undertreatment and related adverse health outcomes.

Published
2021

48. Hyponatremia in children and adults with Prader–Willi Syndrome:A survey involving seven countries

Author

Coupaye, Muriel, Pellikaan, Karlijn, Goldstone, Anthony P., Crinò, Antonino, Grugni, Graziano, Markovic, Tania P., Høybye, Charlotte, Caixàs, Assumpta, Mosbah, Helena, De Graaff, Laura C.G., Tauber, Maithé, Poitou, Christine, Coupaye, Muriel, Pellikaan, Karlijn, Goldstone, Anthony P., Crinò, Antonino, Grugni, Graziano, Markovic, Tania P., Høybye, Charlotte, Caixàs, Assumpta, Mosbah, Helena, De Graaff, Laura C.G., Tauber, Maithé, and Poitou, Christine

Abstract

In Prader–Willi syndrome (PWS), conditions that are associated with hyponatremia are common, such as excessive fluid intake (EFI), desmopressin use and syndrome of inappropriate antidiuretic hormone (SIADH) caused by psychotropic medication. However, the prevalence of hyponatremia in PWS has rarely been reported. Our aim was to describe the prevalence and severity of hyponatremia in PWS. In October 2020, we performed a retrospective study based on the medical records of a large cohort of children and adults with PWS from seven countries. Among 1326 patients (68% adults), 34 (2.6%) had at least one episode of mild or moderate hyponatremia (125 ≤ Na < 135 mmol/L). The causes of non-severe hyponatremia were often multi-factorial, including psychotropic medication in 32%, EFI in 24% and hyperglycemia in 12%. No obvious cause was found in 29%. Seven (0.5%) adults experienced severe hyponatremia (Na < 125 mmol/L). Among these, five recovered completely, but two died. The causes of severe hyponatremia were desmopressin treatment for nocturnal enuresis (n = 2), EFI (n = 2), adrenal insufficiency (n = 1), diuretic treatment (n = 1) and unknown (n = 1). In conclusion, severe hyponatremia was very rare but potentially fatal in PWS. Desmopressin treatment for nocturnal enuresis should be avoided. Enquiring about EFI and monitoring serum sodium should be included in the routine follow-ups of patients with PWS.

Published
2021

49. Hyperprolactinemia in adults with prader-willi syndrome

Author

Sjöström, Anna, Pellikaan, Karlijn, Sjöström, Henrik, Goldstone, Anthony P., Grugni, Graziano, Crinò, Antonino, De Graaff, Laura C.G., Höybye, Charlotte, Sjöström, Anna, Pellikaan, Karlijn, Sjöström, Henrik, Goldstone, Anthony P., Grugni, Graziano, Crinò, Antonino, De Graaff, Laura C.G., and Höybye, Charlotte

Abstract

Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder typically characterized by body composition abnormalities, hyperphagia, behavioural challenges, cognitive dysfunction, and hypogonadism. Psychotic illness is common, particularly in patients with maternal uniparental disomy (mUPD), and antipsychotic medications can result in hyperprolactinemia. Information about hyperprolactinemia and its potential clinical consequences in PWS is sparse. Here, we present data from an international, observational study of 45 adults with PWS and hyperprolactinemia. Estimated prevalence of hyperprolactinemia in a subset of centres with available data was 22%, with 66% of those related to medication and 55% due to antipsychotics. Thirty-three patients were men, 12 women. Median age was 29 years, median BMI 29.8 kg/m2, 13 had mUPD. Median prolactin was 680 mIU/L (range 329–5702). Prolactin levels were higher in women and patients with mUPD, with only 3 patients having severe hyperprolactinemia. Thyroid function tests were normal, 24 were treated with growth hormone, 29 with sex steroids, and 20 with antipsychotic medications. One patient had kidney insufficiency, and one a microprolactinoma. In conclusion, severe hyperprolactinemia was rare, and the most common aetiology of hyperprolactinemia was treatment with antipsychotic medications. Although significant clinical consequences could not be determined, potential negative long-term effects of moderate or severe hyperprolactinemia cannot be excluded. Our results suggest including measurements of prolactin in the follow-up of adults with PWS, especially in those on treatment with antipsychotics.

Published
2021

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