Results 81 to 90 of about 337,411 (342)

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

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

American 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, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

A nursing assessment tool for adults with fecal incontinence. [PDF]

, 2000
Fecal incontinence affects slightly more than 1% of community-dwelling adults. This article describes an assessment format, with a research basis when available, that has been developed in a specialist nursing clinic in the United Kingdom.
Chelvanayagam, Sonya, Norton, C.
core   +1 more source

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

American 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, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Are Concepts About Constipation and Dietary Fiber Changing?

Hospital Practices and Research, 2017
After reading in detail the valuable review article by Korgh et al1 regarding chronic constipation management, we would like to mention some new points about chronic constipation which were not considered in this review.
Shahram Manoochehry, Hamid Reza Rasouli
doaj   +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]

, 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, Hjermstad, Marianne J, Kaasa, Stein, Pardon, Koen, Van Belle, Simon, Verkissen, Mariette   +5 more
core   +2 more sources

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

Annals 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, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

The Irritable Bowel Syndrome [PDF]

, 2009
A 45 year old businessman presents at your clinic with a 2 year history of recurrent abdominal pain, associated with frequent bouts of diarrhoea. The pain is relieved by defaecation, but there is often a feeling of incomplete evacuation.
Zammit, Edward
core  

Turning Slowly Predicts Future Diagnosis of Parkinson's Disease: A Decade‐Long Longitudinal Analysis

Annals of Neurology, EarlyView.
Objective Wearable technology allows accurate measurement of turning while walking, with cross‐sectional studies indicating that difficulty turning presents even in preclinical phases of Parkinson's disease. The aim of our study was to quantify rate of change of turning performance in a cohort of older adults, and test whether turning decline can ...
Morad Elshehabi, Clint Hansen, Markus A. Hobert, Anna‐Katharina von Thaler, Kathrin Brockmann, Bhargav Tallapragada, Florian Metzger, Daniela Berg, Walter Maetzler, Brook Galna   +9 more
wiley   +1 more source

Predictors of slow colonic transit in children

, 2014
PURPOSE: Slow transit constipation (STC) and functional fecal retention (FFR) are two forms of severe intractable constipation in childhood diagnosed by nuclear transit studies (NTS).
Croaker, Geoffrey David Hain, Quinn, Rakesh, Ridha, Zainab   +2 more
core   +1 more source