Results 121 to 130 of about 228,760 (347)

Chronic atrial and intestinal dysrythmia syndrome: A late‐onset intestinal pseudo‐obstruction and cardiac dysfunction due to an SGO1 mutation

JPGN Reports, EarlyView.
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a rare, heterogeneous, and severe gut motility disorder. In 2014, Chetaille et al. described chronic atrial and intestinal dysrhythmia (CAID) syndrome associated with a recessive SGO1 mutation (p.Lys23Glu) linking it to both intestinal pseudo‐obstruction and cardiac dysrhythmia. This
Linda Adouane, Pierre Poinsot, Julie Castilloux, Dorothée Dal Soglio, Christophe Faure   +4 more
wiley   +1 more source

A familial syndrome of short stature, deformities of the hands and feet, and an unusual facies. [PDF]

, 1970
Alan E H Emery, Magnus Nelson
openalex   +1 more source

Thromboelastography Maximum Amplitude Is a Valuable Biomarker for Early Atherosclerosis in Rheumatoid Arthritis Patients: A Single‐Center Cross‐Sectional Study

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Hypercoagulability contributes to atherosclerosis (AS) progression in individuals suffering from rheumatoid arthritis (RA), and thromboelastography (TEG) is a valuable diagnostic tool. This hospital‐based cross‐sectional study assessed the clinical efficacy of TEG parameters in detecting hypercoagulability and subclinical AS by purposively ...
Qing‐Lin Zhang, Qian Xu, Rong Huang, Ming‐Zhong Sun, Dong‐Mei Jiang, Hui Tao, Hao Jin   +6 more
wiley   +1 more source

OXANDROLONE THERAPY FOR SHORT STATURE [PDF]

, 1978
H. N. B. WETTENHALL, Betty Norman
openalex   +1 more source

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

Movement Disorders, EarlyView.
Abstract Background Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. While biallelic loss‐of‐function variants in PDE10A are known to cause hyperkinetic movement disorders, the ...
Tomer Poleg, Noam Hadar, Eyal Kristal, Nicola Y. Roberts, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan Jean, Ofek Freund, Eamonn G. Sheridan, James A. Poulter, Michelle L. Thompson, Yusra Algoos, Salma Al‐Qahtani, Lama AlAbdi, Sateesh Maddirevula, Verity Hartill, Henry Houlden, Reza Maroofian, Amit Nahum, Ohad S. Birk   +21 more
wiley   +1 more source

Targeting Histone H3K9 Methyltransferase G9a as a Potential Therapeutic Strategy for Neuropsychiatric Disorders

Medicinal Research Reviews, EarlyView.
ABSTRACT Neuropsychiatric disorders present a multifaceted challenge, characterized by cognitive, social, and motor impairments with manifold underlying mechanisms. Recent attention has turned to epigenetic mechanisms, particularly histone lysine methyltransferases (HKMTs), such as G9a, in understanding fundamental pathogenesis.
Malak Hajar, Tobias Werner, Mihajlo Gajic, Holger Stark, Bassem Sadek   +4 more
wiley   +1 more source

The Prevalence and Determinants of Short Stature in HIV-Infected Children

Journal of the International Association of Providers of AIDS Care, 2014
Background: Children with HIV infection are often reported to be short. The aim of this study was to assess the prevalence of HIV-associated short stature in HIV endemic setting.
Dipesalema R. Joel MBBCh, BAO, BMedSc, MRCPI, Vincent Mabikwa BA, MA, Jerry Makhanda BSc, MSc, Michael A. Tolle MD, MPH, Gabriel M. Anabwani MBChB, MMed, MSCE, FRCPE, Syed Faisal Ahmed MD, FRCPCH   +5 more
doaj   +1 more source

Short stature and its treatment. [PDF]

, 1972
A. Stuart Mason
openalex   +1 more source

The use of octreotide in pediatric patients: Practical applications for gastrointestinal disorders and beyond: A narrative review

Nutrition in Clinical Practice, EarlyView.
Abstract Somatostatin is a naturally occurring polypeptide hormone that exerts its effect on the gastrointestinal tract by reducing exocrine and endocrine secretion, resulting in decreased motility, gastric emptying, splanchnic blood flow, fat absorption, lymphatic flow, and gallbladder contraction.
Bailey Dunn, Megan Foxe, Kathy Hunter Sprott, Jessica E. Hook, Candi Jump   +4 more
wiley   +1 more source

Association between Adult Stature and Energy Expenditure in Low-Income Women from Northeastern Brazil.

PLoS ONE, 2015
BackgroundPerinatal undernutrition may lead to important metabolic adaptations in adult life, short stature being the most visible. The present study aimed to evaluate the association between stature and total energy expenditure of low-income women ...
Fabiana Cristina Alves Albuquerque, Nassib Bezerra Bueno, Ana Paula Grotti Clemente, Eduardo Ferriolli, Telma Maria Menezes Toledo Florêncio, Daniel Hoffman, Ana Lydia Sawaya   +6 more
doaj   +1 more source