1043. X-linked hypophosphataemia.
作者: Peter Kamenický.;Karine Briot.;Craig F Munns.;Agnès Linglart.
来源: Lancet. 2024年404卷10455期887-901页
X-linked hypophosphataemia is a genetic disease caused by defects in the phosphate regulating endopeptidase homolog X-linked (PHEX) gene and is characterised by X-linked dominant inheritance. The main consequence of PHEX deficiency is increased production of the phosphaturic hormone fibroblast growth factor 23 (FGF23) in osteoblasts and osteocytes. Chronic exposure to circulating FGF23 is responsible for renal phosphate wasting and decreased synthesis of calcitriol, which decreases intestinal phosphate absorption. These mechanisms result in lifelong hypophosphataemia, impaired growth plate and bone matrix mineralisation, and diverse manifestations in affected children and adults, including some debilitating morbidities and possibly increased mortality. Important progress has been made in disease knowledge and management over the past decade; in particular, targeting FGF23 is a therapeutic approach that has substantially improved outcomes. However, patients affected by this complex disease need lifelong care and innovative treatment strategies, such as gene repair of PHEX, are necessary to further limit the disease burden.
1046. Obesity in adults.
作者: Ildiko Lingvay.;Ricardo V Cohen.;Carel W le Roux.;Priya Sumithran.
来源: Lancet. 2024年404卷10456期972-987页
Obesity has increased in prevalence worldwide and WHO has declared it a global epidemic. Population-level preventive interventions have been insufficient to slow down this trajectory. Obesity is a complex, heterogeneous, chronic, and progressive disease, which substantially affects health, quality of life, and mortality. Lifestyle and behavioural interventions are key components of obesity management; however, when used alone, they provide substantial and durable response in a minority of people. Bariatric (metabolic) surgery remains the most effective and durable treatment, with proven benefits beyond weight loss, including for cardiovascular and renal health, and decreased rates of obesity-related cancers and mortality. Considerable progress has been made in the development of pharmacological agents that approach the weight loss efficacy of metabolic surgery, and relevant outcome data related to these agents' use are accumulating. However, all treatment approaches to obesity have been vastly underutilised.
1051. Fibrofatty involution of rhabdomyomas: a longitudinal series of cardiac MRI studies in a patient with possible tuberous sclerosis complex.
作者: Joana Ferreira.;Paula Poveda Velazquez.;Marina Zaromytidou.;Giulia Montrasio.;Saidi Mohiddin.;Neha Sekhri.
来源: Lancet. 2024年404卷10453期692-693页 1052. Efficacy and safety of emodepside compared with albendazole in adolescents and adults with hookworm infection in Pemba Island, Tanzania: a double-blind, superiority, phase 2b, randomised controlled trial.
作者: Lyndsay Taylor.;Ahmada Ali Ahmada.;Msanif Said Ali.;Said Mohammed Ali.;Jan Hattendorf.;Ibrahim Said Mohammed.;Jennifer Keiser.
来源: Lancet. 2024年404卷10453期683-691页
Human hookworm is a cause of enormous global morbidity. Current treatments have insufficient efficacy and their extensive and indiscriminate distribution could also result in drug resistance. Therefore, we tested the efficacy and safety of emodepside, a strong anthelmintic candidate that is currently undergoing clinical development for onchocerciasis and soil-transmitted helminth infections.
1053. Hypothermic oxygenated perfusion of the donor heart in heart transplantation: the short-term outcome from a randomised, controlled, open-label, multicentre clinical trial.
作者: Filip Rega.;Guillaume Lebreton.;Marylou Para.;Sebastian Michel.;René Schramm.;Emmanuelle Begot.;Katrien Vandendriessche.;Christine Kamla.;Gino Gerosa.;Marius Berman.;Udo Boeken.;Steven Clark.;Aaron Ranasinghe.;Fabio Ius.;Alberta Forteza.;Aldina Pivodic.;Felix Hennig.;Sabina Guenther.;Andreas Zuckermann.;Christoph Knosalla.;Göran Dellgren.;Andreas Wallinder.; .
来源: Lancet. 2024年404卷10453期670-682页
Static cold storage (SCS) remains the gold standard for preserving donor hearts before transplantation but is associated with ischaemia, anaerobic metabolism, and organ injuries, leading to patient morbidity and mortality. We aimed to evaluate whether continuous, hypothermic oxygenated machine perfusion (HOPE) of the donor heart is safe and superior compared with SCS.
1054. Effect of high versus standard protein provision on functional recovery in people with critical illness (PRECISe): an investigator-initiated, double-blinded, multicentre, parallel-group, randomised controlled trial in Belgium and the Netherlands.
作者: Julia L M Bels.;Steven Thiessen.;Rob J J van Gassel.;Albertus Beishuizen.;Ashley De Bie Dekker.;Vincent Fraipont.;Stoffel Lamote.;Didier Ledoux.;Clarissa Scheeren.;Elisabeth De Waele.;Arthur R H van Zanten.;Laura Bormans-Russell.;Bas C T van Bussel.;Marlies M J Dictus.;Tom Fivez.;Ingeborg Harks.;Iwan C C van der Horst.;Joop Jonckheer.;Hugues Marechal.;Paul B Massion.;Ingrid Meex.;Michelle C Paulus.;Martin Rinket.;Susanne van Santen.;Katrien Tartaglia.;Adam M Deane.;Frieda Demuydt.;Zudin Puthucheary.;Lilian C M Vloet.;Peter J M Weijs.;Sander M J van Kuijk.;Marcel C G van de Poll.;Dieter Mesotten.; .
来源: Lancet. 2024年404卷10453期659-669页
Increased protein provision might ameliorate muscle wasting and improve long-term outcomes in critically ill patients. The aim of the PRECISe trial was to assess whether higher enteral protein provision (ie, 2·0 g/kg per day) would improve health-related quality of life and functional outcomes in critically ill patients who were mechanically ventilated compared with standard enteral protein provision (ie, 1·3 g/kg per day).
|