Results 81 to 90 of about 106,018 (259)

The ratio of remaining to expected small bowel length predicts enteral autonomy in pediatric patients with short bowel syndrome

Biomedical Journal
Background: Pediatric patients with short bowel syndrome (SBS) often require long-term parenteral nutrition and intravenous fluid support (PN) until enteral autonomy (EA). However, long-term PN accounts for many complications. We aimed to investigate the
Chia-Wei Chang, Pai-Jui Yeh, Hung-Hsian Lai, Mi-Chi Chen, Yung-Ching Ming, Jing-Yao Lai, Ming-Wei Lai   +6 more
doaj   +1 more source

Short Bowel Syndrome: Intestinal Adaptation and Medical Therapy

Canadian Journal of Gastroenterology, 1990
Short bowel syndrome is a clinical entity, a consequence of significant loss of intestinal surface area, and manifests a variable picture of diarrhea, steatorrhea, malabsorprion and weight loss.
WD Buie, OG Thurston, Richard N Fedorak
doaj   +1 more source

Characteristics of Anal Fistula Cancer in Patients Who Underwent Surgery: A Nationwide Observational Study Using Diagnosis Procedure Combination Data

Annals of Gastroenterological Surgery, EarlyView.
The characteristics of patients with anal fistula cancer included a higher proportion of men, younger age, more smokers, and tumor‐related characteristics, including more advanced local progression. Surgical characteristics included a lower rate of minimally invasive surgery, a higher proportion of total pelvic exenterations, and longer postoperative ...
Nobuaki Hoshino, Hiromitsu Kinoshita, Kazutaka Obama, Kiyohide Fushimi, Susumu Kunisawa, Yuichi Imanaka   +5 more
wiley   +1 more source

Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report

Journal of Medical Case Reports, 2012
Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection.
Xie Ying, Zhu Weiming, Li Ning, Li Jieshou   +3 more
doaj   +1 more source

Systemic Bevacizumab for Severe Bleeding From Acquired Gastrointestinal Vascular Malformations

American Journal of Hematology, EarlyView.
Targeted antiangiogenic therapy with systemic bevacizumab for bleeding from acquired GI VMs was found to be safe and effective for chronic and severe bleeding from acquired vascular malformations due to idiopathic angiodysplasia, chronic liver disease, and deficiencies of von Willebrand factor, in a patient population comprised mostly of heavily ...
Nardeen E. Ayad, Jacob R. Anderson, Bimalangshu Dey, Rebecca Karp Leaf, Andrew B. Song, Hanny Al‐Samkari   +5 more
wiley   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Exosome‐mediated gut–brain axis signaling in neurodegenerative diseases: Mechanisms, experimental evidence, and therapeutic perspectives—A narrative review

Animal Models and Experimental Medicine, EarlyView.
The gut–brain axis is a bidirectional communication network between the intestines and brain, mediated by gut microbiota and exosomes, that regulates neuroinflammation, protein aggregation, and neuronal health processes central to neurodegenerative diseases.
Waheeb Sami Aggad, Rakesh Ghosh, Hailah M. Almohaimeed, Zuhair M. Mohammedsaleh, Fayez M. Saleh, Amany I. Almars, S. Renuka Jyothi, Rajashree Panigrahi, Ajoy Kumer, Bikram Dhara   +9 more
wiley   +1 more source

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source