Prem Puri - Selected Publications#
Google scholar H-index 81 (26,258 citations, i10-index 525)
1, Pediatric Surgery- Major Reference Book Edited by Puri, P & published by SpringerNature, 2023
The vast amount of information included in Pediatric Surgery is divided into three volumes ( 195 chapters & 3,246 pages ), providing an authoritative, comprehensive and up-to-date international reference on the surgical management of both common and rare diseases in children, written by the world's foremost 359 experts. This is the only reference book in pediatric surgery which has three different publication formats (1) printed book (2) a statice-version on SpringerLink that mirrors the printed book and (3) a living reference also on SpringerLink that is constantly updatable, allowing the reader to rapidly find up-to-date information on a specific topic.
2, Pediatric Surgery- Diagnosis and Management. 2nd Edition, Edited by Puri, P & Hollwarth M, Published by Springer in 2023
The second edition has been substantially revised and updated to reflect the major advances in prenatal diagnosis, imaging, anaesthesia, intensive care and minimally invasive surgery including robotic technology.
3, Zani A, Puri P. Congenital diaphragmatic hernia: exploring the intersection of personal experience and research.( Invited Commentary ) Pediatr Res. 2023 May 31. doi: 10.1038/s41390-023-02664-5. Online ahead of print. PMID: 37258716
Although, congenital diaphragmatic hernia (CDH ) is more common than spina bifida and cystic fibrosis, it receives comparatively far less public awareness and research funding than the other two conditions. The abnormal lung development is the principal cause of high mortality and morbidity. The recent advances in the prenatal diagnosis and identification of prognostic factors have resulted in the refinement of approaches to fetal therapies for CDH. There is a now consensus among CDH experts that promoting lung development during fetal life is the optimal way to improve outcome, as intervening after birth is too late.
4, Friedmacher F, Rolle U, Puri P. Genetically Modified Mouse Models of Congenital Diaphragmatic Hernia: Opportunities and Limitations for Studying Altered Lung Development.Front Pediatr. 2022 May 13;10:867307.doi10.3389/fped.2022.867307. .PMID: 35633948
Over the years, experimental animal models of CDH have not only permitted us to investigate the pathogenesis of this relatively common but complex birth defect in more detail, they have also led to a better understanding of the molecular genetic basis of the underlying tissue defects. Therefore, animals with CDH in which this congenital anomaly develops naturally represent the ideal research models to study disease pathomechanisms and related lung abnormalities, as there is minimal interference to the animal before the examination. Furthermore, genetically modified animal models of CDH not only resemble the natural development of this malformation, they also provide new insights into the participating genes and signaling pathways, and how their modification can potentially change the course of this life-threatening condition.
5, Verbitsky M, Krithivasan P, Batourina E, Khan A, Graham SE, Marasà M, Kim H, Lim TY, Weng PL, Sánchez-Rodríguez E, Mitrotti A, Ahram DF, Zanoni F, Fasel DA, Westland R, Sampson MG, Zhang JY, Bodria M, Kil BH, Shril S, Gesualdo L, Torri F, Scolari F, Izzi C, van Wijk JAE, Saraga M, Santoro D, Conti G, Barton DE, Dobson MG, Puri P, Furth SL, Warady BA, Pisani I, Fiaccadori E, Allegri L, Degl'Innocenti ML, Piaggio G, Alam S, Gigante M, Zaza G, Esposito P, Lin F, Simões-E-Silva AC, Brodkiewicz A, Drozdz D, Zachwieja K, Miklaszewska M, Szczepanska M, Adamczyk P, Tkaczyk M, Tomczyk D, Sikora P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Lozanovski VJ, Gucev Z, Ionita-Laza I, Stanaway IB, Crosslin DR, Wong CS, Hildebrandt F, Barasch J, Kenny EE, Loos RJF, Levy B, Ghiggeri GM, Hakonarson H, Latos-Bieleńska A, Materna-Kiryluk A, Darlow JM, Tasic V, Willer C, Kiryluk K, Sanna-Cherchi S, Mendelsohn CL, Gharavi AG. Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. J Am Soc Nephrol. 2021 Apr;32(4):805-820. doi: 10.1681/ASN.2020050681. Epub 2021 Feb 17.PMID: 33597122
6, Darlow JM, Dobson MG, Green AJ, Puri P, Barton DE. Investigation of DNA variants specific to ROBO2 Isoform 'a' in Irish vesicoureteric reflux patients reveals marked CpG island variation. Sci Rep. 2020 Feb 10;10(1):2265. doi: 10.1038/s41598-020-58818-6.PMID: 32041992
7, Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25.PMID: 28121514
Primary vesicoureteral reflux (VUR) is the most common urological anomaly in children, affecting 1-2% of the pediatric population and 30-40% of children presenting with urinary tract infections (UTIs). Reflux-associated nephropathy is a major cause of childhood hypertension and chronic renal failure. The hereditary and familial nature of VUR is well recognized and several studies have reported that siblings of children with VUR have a higher incidence of reflux than the general pediatric population. In Dublin we have the largest number of families with vesicoureteral reflux in the world from one centre. During the past few years we have been collaborating with our colleagues from UK, USA and a few centres in Europe to investigate the genetics of vesicoureteral reflux and have reported important new insights into the genetic basis of VUR.
8, Hirschsprung’s Disease and Allied Disorders – 4th Edition, Edited by Puri, P and Published by Springer in 2019
I have had a special research interest in Hirschsprung’s Disease and Allied Disorders for the past three decades and have published 144 articles in peer reviewed journals and edited the above book. Our centre has been recognised as the leading international centre for the investigation and management of
“ Variant Hirschsprung Disease”, a term I first coined in 1997. These are conditions that clinically resemble Hirschsprung Disease, despite the presence of ganglion cells in rectal suction biopsies . The diagnosis and management of these patients can be challenging. Specific histological, immunohistochemical and electron microscopic investigations are required to characterize this heterogeneous group of functional bowel disorders. Variants include intestinal neuronal dysplasia, intestinal ganglioneuromatosis, isolated hypoganglionosis, immature ganglia, absence of the argyrophil plexus, internal anal sphincter achalasia and congenital smooth muscle cell disorders such as megacystis microcolon intestinal hypoperistalsis syndrome.
9, P Puri, B O'Donnell Correction of experimentally produced vesicoureteric reflux in the piglet by intravesical injection of Teflon. Br Med J 289 (6436), 5-7, 1984
10, B O'Donnell, P Puri Treatment of vesicoureteric reflux by endoscopic injection of Teflon. Br Med J 289 (6436), 7-9, 1984
The above paper describing the concept of endoscopic treatment, published in the British Medical Journal in 1984 was accorded “classic paper” status in the April 2002 issue of Journal of Urology. This research on vesicoureteral reflux (VUR), the most common urological disorder in children has had a major worldwide impact on patient treatment, through the development of a 15-minute day care endoscopic procedure to replace a major open surgical procedure. As a direct result of this research, the endoscopic treatment has radically altered the management of vesicoureteral reflux throughout the world. It is estimated that nearly a million children with VUR have been treated worldwide using this technique since 1984.
