Results 71 to 80 of about 1,766,369 (284)
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
Sex ratio of infants born to women with severe chronic constipation
, 2011 WH JamesDepartment of Genetics, Evolution and Environment, University College London, London, UKCzeizel et al1 reported a significant male excess among infants born to women with severe chronic constipation as contrasted with controls.
William James, WH James
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 +13 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 +10 more
wiley +1 more source
Economic burden associated with chronic constipation in Sweden: a retrospective cohort study
ClinicoEconomics and Outcomes Research, 2014 Sara Bruce Wirta,1 Paul Hodgkins,2 Alain Joseph3 1IMS Health, Stockholm, Sweden; 2Shire, Wayne, PA, USA; 3Shire, Eysins, Switzerland Background: Chronic constipation is a common condition, but few studies have assessed its cost and impact on resource ...
Bruce Wirta S, Hodgkins P, Joseph A
doaj
Chronic constipation: A critical review
Digestive and Liver Disease, 2013 Chronic constipation is a very common symptom that is rarely associated with life-threatening diseases, but has a substantial impact on patient quality of life and consumption of healthcare resources. Despite the large number of affected patients and the social relevance of the condition, no cost-effectiveness analysis has been made of any diagnostic ...
G. Basilisco, M. Coletta
openaire +4 more sources
Chronic Constipation Management in Adults [PDF]
, 2017 Constipation is a symptom characterized by defecation frequency less than three times a week or fecal impaction. Chronic constipation is characterized by a sense of rectal dissatisfaction, bowel movement difficulty, or both.
Erliza Fatmawati +10 more
core +1 more source
Annals of Neurology, EarlyView.Objective To evaluate the effectiveness and safety of ocrelizumab in self‐identified black and Hispanic people with relapsing multiple sclerosis. Methods The Characterization of Ocrelizumab in Minorities with Multiple Sclerosis (CHIMES) trial, a prospective, open‐label, single‐arm, phase 4 study, intentionally recruited underrepresented populations in ...
Lilyana Amezcua +16 more
wiley +1 more source
Kidney 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
VAGOTONIA AND CHRONIC CONSTIPATION
The Journal of Nervous and Mental Disease, 1920 n ...
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