Results 71 to 80 of about 1,870,289 (287)

Update in functional chronic constipation in children [PDF]

, 2005
Chronic constipation is a common problem in the pediatric population. Among children 95% have functional constipation (constipation not due to organic and anatomic causes or intake of medication). Constipation should be distinguished from Hirschsprung'
Carlos Alberto Velasco
core   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +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

Chronic Constipation in the Community

, 2020
PURPOSE:The aim of this study was to determine the prevalence of chronic constipation and identify factors associated with chronic constipation in community-dwelling adults. DESIGN:Cross-sectional study.
Murray J. Fisher, Williams, KA, Kylie A. Williams, Barry L. Werth, Lisa G. Pont, Werth, BL, Pont, LG, Fisher, MJ   +7 more
core   +1 more source

Expanded characterization of the valproic acid zebrafish larval model of autism spectrum disorder: Insights into dysregulation in the gut

Animal Models and Experimental Medicine, EarlyView.
Meticulous calculation of zebrafish‐equivalent therapeutic valproic acid (VPA) dosage maximized the translational value of the data. Hyposerotonergic tone underpinned an anxiety‐like outcome as a core symptom of autism spectrum disorder (ASD). Compartment‐specific dopaminergic and serotonergic dysregulation in the brain versus gut provided mechanistic ...
Lesha Pretorius, Johanna Adriana Coetzee, Alexio Pedro dos Santos, Carine Smith   +3 more
wiley   +1 more source

Blood pressure effects of SGLT2 inhibitors and GLP‐1 receptor agonists: Mechanisms, trial evidence and Real‐world data

British Journal of Clinical Pharmacology, EarlyView.
SGLT2 inhibitors and GLP‐1 receptor agonists modestly lower blood pressure across diverse patient populations, including those without diabetes. These effects appear largely independent of glycaemic control and offer additive value in high‐risk patients with overlapping comorbidities.
Andrej Belančić, Yusuf Ziya Sener, Marijana Vučković, Joseph Edgar Blais, Almir Fajkić, Emina Sher, Mislav Radić, Josipa Radić   +7 more
wiley   +1 more source

Lubiprostone: a novel treatment for chronic constipation

, 2008
Brian E Lacy, L Campbell LevySection of Gastroenterology and Hepatology, Dartmouth-Hitchcock Medical Center, Lebanon NH, USAAbstract: Chronic constipation is highly prevalent, reduces patients’ quality of life, and imposes a significant health care
L Campbell Levy, Brian E Lacy
core  

Exposure‐adjusted safety and efficacy of GLP‐I and GLP‐1/GIP receptor agonists compared with non‐GLP‐I for weight management and type 2 diabetes: Based on FDA medical and statistical reports of 34 280 safety and 36 312 efficacy subjects

British Journal of Clinical Pharmacology, EarlyView.
Aims This work aimed to contextualize glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) and glucose‐dependent insulinotropic polypeptide (GIP) receptor agonists safety and efficacy regarding weight management (WM); we analysed Food and Drug Administration (FDA) Medical Reviews to analyse 14 medications using patient‐exposure year normalization and ...
Aishwarya Prasad, Anshu Arora, Arun Arora, Jeena Vaid, Arif Khan   +4 more
wiley   +1 more source

Safety outcomes of antidiabetic medications: A comprehensive review of the EU summaries of product characteristics and international clinical practice guidelines

British Journal of Clinical Pharmacology, EarlyView.
Aims Information on the safety profile of antidiabetic medications is essential for informed treatment decisions in type 2 diabetes mellitus. Although this information is available in regulatory documents of individual drugs, a comprehensive overview across all approved antidiabetics is lacking.
David Liang, Daniala L. Weir, Safana Thevasahayam, Vera H. M. Deneer, Arno Siebes, Helga Gardarsdottir   +5 more
wiley   +1 more source