Results 111 to 120 of about 2,901,268 (383)

CHRONIC CONSTIPATION AND ABDOMINAL PAIN: INDEPENDENT OR CLOSELY-INTERRELATED SYMPTOMS?

open access: yesJournal of Gastroenterology and Hepatology, 2020
Constipation is both a symptom and a disorder, seen in both functional constipation and irritable bowel syndrome with constipation predominance (IBS-C).
M. Wong   +3 more
semanticscholar   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

Tapentadol extended release for the management of chronic neck pain [PDF]

open access: yes, 2017
BACKGROUND: The role of opioids in the management of chronic neck pain is still poorly investigated. No data are available on tapentadol extended release (ER).
Coluzzi, Flaminia
core   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Quality of life and symptom intensity over time in people with cancer receiving palliative care : results from the international European Palliative Care Cancer Symptom study [PDF]

open access: yes, 2019
Background People with advanced cancer experience multiple symptoms during their illness trajectory, which can fluctuate in intensity. Aim To describe the course of self-reported quality of life, emotional functioning, physical functioning and symptom ...
Deliens, Luc   +5 more
core   +2 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Constipation in CKD

open access: yesKidney International Reports, 2020
Constipation is one of the most common gastrointestinal disorders among patients with chronic kidney disease (CKD) partly because of their sedentary lifestyle, low fiber and fluid intake, concomitant medications (e.g., phosphate binders), and multiple ...
Keiichi Sumida   +2 more
doaj   +1 more source

The Guanylate Cyclase C-cGMP Signaling Axis Opposes Intestinal Epithelial Injury and Neoplasia. [PDF]

open access: yes, 2018
Guanylate cyclase C (GUCY2C) is a transmembrane receptor expressed on the luminal aspect of the intestinal epithelium. Its ligands include bacterial heat-stable enterotoxins responsible for traveler\u27s diarrhea, the endogenous peptide hormones ...
Rappaport, Jeffrey A., Waldman, Scott A.
core   +2 more sources

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

open access: yesAnnals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek   +7 more
wiley   +1 more source

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