Results 121 to 130 of about 389,522 (398)

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Comparison of three with six regions of interest analyses in patients with idiopathic constipation undertaking colon transit scintigraphy using 67Ga-citrate [PDF]

, 2013
OBJECTIVE AND INTRODUCTION: Preparation of data from 6 geometric regions of interest in the colon is time consuming, and can become impractical in the environment of busy Nuclear Medicine Departments.
Asli, I.N., Assadi, M., Ehsani, M.J., Javadi, H., Semnani, S., Tabib, S.M.   +5 more
core  

Chronic constipation

Medicine, 2018
Background: Chronic constipation is described as a common complication determined by difficult and/or rare passage of stool or both. The difference in definition of constipation has led to a wide range of reported prevalence (i.e., between 1% and 80 ...
M. Forootan, N. Bagheri, M. Darvishi
semanticscholar   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Effects of Single-Dose Prucalopride on Intestinal Hypomotility in Horses: Preliminary Observations [PDF]

, 2017
Abnormalities of gastrointestinal motility are often a challenge in horses; however, the use of prokinetic drugs in such conditions must be firmly established yet.
Bassotti, G., Faillace, Vanessa, Fettucciari, K, Fratini, Margherita, Laus, Fulvio, Paggi, Emanuele, Spaterna, Andrea, Tesei, Beniamino   +7 more
core   +2 more sources

Relationship Between Microbiota of the Colonic Mucosa vs Feces and Symptoms, Colonic Transit, and Methane Production in Female Patients With Chronic Constipation.

Gastroenterology, 2016
BACKGROUND & AIMS In fecal samples from patients with chronic constipation, the microbiota differs from that of healthy subjects. However, the profiles of fecal microbiota only partially replicate those of the mucosal microbiota.
G. Parthasarathy, Jun Chen, Xianfeng Chen, N. Chia, H. O'Connor, Patricia G. Wolf, H. Gaskins, A. Bharucha   +7 more
semanticscholar   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source

Comparison of symptoms, healthcare utilization, and treatment in diagnosed and undiagnosed individuals with diarrhea-predominant irritable bowel syndrome [PDF]

, 2017
OBJECTIVES: Irritable bowel syndrome (IBS) is a functional bowel disorder characterized by symptoms including abdominal pain and altered bowel function. Up to 75% of individuals with IBS may be undiagnosed.
Chang, Lin, Sayuk, Gregory S, Wolf, Ray
core   +2 more sources

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Women's beliefs about medication use during their pregnancy: a UK perspective [PDF]

, 2016
Background: Previous research has examined the number and extent of medicines taking in pregnant women but not their beliefs and risk perception surrounding their use.
Lupattelli, Angela, Nordeng, Hedvig, Twigg, Michael   +2 more
core   +1 more source