Results 41 to 50 of about 21,199 (232)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Sedation and Endoscopy-Assisted High-Resolution Manometry (SEA-HRM) in Patients Who Previously Failed Standard Esophageal Manometry

Diagnostics
Objectives: Esophageal high-resolution manometry (HRM) is the gold standard for diagnosing esophageal motility disorders, but it may be poorly tolerated and unsuccessful.
Daniel L. Cohen, Eyal Avivi, Sergei Vosko, Vered Richter, Haim Shirin, Anton Bermont   +5 more
doaj   +1 more source

Lateral Internal Sphincterotomy versus V-Y Anoplasty in Treatment of Chronic Anal Fissure: a Comparative Trial Based on Manometry Results [PDF]

Iranian Journal of Colorectal Research, 2019
Background: Conservative treatment of chronic anal fissure (CAF) is the first line of treatment. Patients who fail conservative treatment are offered surgical treatment in the form of lateral internal sphincterotomy (LIS) or V-Y anoplasty.Objective: This
Marwa Sobhi, Sameh Hany Emile, Ahmed AbdelMawla, Mohamed Youssef, Sabry Mahmoud   +4 more
doaj  

Updated ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease 2025

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives To revise the 2018 European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies (ERNICA) clinical guideline for the management of rectosigmoid Hirschsprung's disease (HSCR) based on new evidence and evolving clinical priorities, ensuring continued relevance, trustworthiness, and consistency ...
Daniel Rossi, Willemijn Irvine, Anna Löf Granström, Annika Mutanen, Roel Bakx, Kristin Bjørnland, Duccio Cavalieri, Piotr Czauderna, Anne Dariel, Mark Ellebæk, Francesco Fascetti Leon, Fabio Fusaro, Dirk‐Jan Gloudemans, Marietta Jank, Peter Kolja Kvist, Martin Lacher, Annette Lemli, Lucas Matthyssens, Louise Montalva, Pedro Palazon, Alessio Pini Prato, Lucie Pos, Roxana Rassouli‐Kirchmeier, Konrad Reinshagen, Nagoud Schukfeh, Rony Sfeir, Olivia Spivack, Pernilla Stenström, Lovisa Telborn, Eelke Toxopeus, Alejandra Vilanova, Miriam Wilms, Rene Wijnen, Cornelius E. J. Sloots, Mikko Pakarinen, Tomas Wester   +35 more
wiley   +1 more source

High Resolution and High Definition Anorectal Manometry [PDF]

, 2020
Th e book provides a comprehensive overview of high resolution and high definition anorectal manometry (HRAM/HDAM), showing the possible benefits of a wider use of these techniques in clinical practice, as well as their limitations.
Gabrio Bassotti, Massimo Bellini, Paola Iovino, Francesco Torresan, Andrea Pancetti, Edda Battaglia, Gabriele Barletta, Renato Bocchini, Nicola de Bortoli, Filippo Pucciani, Teresa Di Chio   +10 more
core  

Functional constipation in children and young adults with Prader–Willi syndrome

JPGN Reports, EarlyView.
Abstract Objectives Prader–Willi Syndrome (PWS) is characterized by hyperphagia, endocrinopathies, and gastrointestinal abnormalities. Clinical concerns about constipation and fecal incontinence (FI) are common, but no studies to date have clear data on functional defecation disorders in children with PWS.
Melinda J. Pierce, Isabella Niu, Lusine Ambartsumyan, Parisa Salehi   +3 more
wiley   +1 more source

Combined multichannel intraluminal impedance and manometry testing.

, 2008
: Oesophageal manometry has been considered the "gold standard" test for the evaluation of oesophageal motility. Oesophageal manometry allows physicians to assess peristalsis by using informations about the shape, amplitude and duration of the ...
R. Tutuian, SAVARINO, EDOARDO VINCENZO
core   +1 more source

Repeatability of innervation zone identification in the external anal sphincter muscle [PDF]

, 2010
Knowledge of the distribution of the innervation zones (IZs) of the external anal sphincter (EAS) may be useful for preventing anal sphincter incompetence during vaginal delivery.
Davico, E., Franz, H., Merletti, Roberto, Enck, P., Enck P, Mesin, Luca, Franz H, Mastrangelo, Francesco, Davico E   +8 more
core   +1 more source

Demographic and Manometric Variables Can Independently Predict Gastroesophageal Reflux Disease: The AGES-D Score [PDF]

The Korean Journal of Helicobacter and Upper Gastrointestinal Research
Objectives Conclusive diagnosis of gastroesophageal reflux disease (GERD) can be challenging. When reflux monitoring is inconclusive, high-resolution esophageal manometry (HRM) may provide additional relevant information. We aimed to identify demographic
Diego Reyes-Placencia, Ana Muñoz, Roberto Candia, Paula Rey, Javier Chahuan, Ignacio Gran, José María Remes-Troche, Daniel Cisternas, Hugo Monrroy   +8 more
doaj   +1 more source

Management of Absent Upper Esophageal Sphincter Opening After Neurological Injury

The Laryngoscope, EarlyView.
This study evaluated the effects of swallowing therapy and cricopharyngeus (CP) muscle surgery on upper esophageal sphincter (UES) opening, oral intake, and airway protection in patients with absent UES opening following neurological injury. CP‐targeted surgeries were associated with improved bolus passage and oral intake, but persistent aspiration ...
Radhika Rawat, Cyrus W. Abrahamson, Kelly Rogers, Jonelyn Langenstein, Jaymie Bromfield, Arjun Seth, James A. Burns, Andrew P. Stein   +7 more
wiley   +1 more source