Results 171 to 180 of about 95,756 (262)

Uncontrolled asthma is Associated with Increased Visceral Adipose Tissue, Decreased Bone Mineral Content, and Reduced Exercise Capacity. [PDF]

J Asthma Allergy
Schleich F, Ziant S, Louis S, Moermans C, Deroisy R, Louis R, Kaux JF, Bury T.   +7 more
europepmc   +1 more source

Machine Learning‐Enabled Field Prediction and Inverse Design of Functionally Graded Materials Inspired by Tendon–Bone Enthesis

Advanced Intelligent Systems, EarlyView.
A mechanics‐informed machine learning framework enables mechanics field prediction and inverse design of tendon–bone enthesis‐inspired functionally graded materials that reduce stress concentration and failure risk. By coupling multiscale finite element modeling, convolutional field prediction, and kernel‐based inverse design, the study uncovers ...
Zhangke Yang, Zhaoxu Meng
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Humic Acid Derived from Vermicompost Improves Bone Mineral Content and Alters Oxidative Stress Markers in Ovariectomized Mice. [PDF]

Biomedicines
Santos TCD, Silva HP, Lima KR, Salvador MLN, Cândido GS, Pimenta LCJP, Bertolini NO, Ribeiro LB, Fagundes FG, Orlando DR, Borges BDB, Dias-Peixoto MF, Machado ART, Dobbss LB, Pereira LJ, Andrade EF.   +15 more
europepmc   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

In-utero exposure to tenofovir-containing pre-exposure prophylaxis and bone mineral content in HIV-unexposed infants in South Africa. [PDF]

J Int AIDS Soc
Reddy K, Naidoo KL, Lombard C, Godlwana Z, Desmond AC, Clark R, Rooney JF, Gray G, Moodley D.   +8 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Predicting Bone Mineral Content from Smartphone Digital Anthropometrics: Evaluation of an Existing Application and the Development of New Prediction Models. [PDF]

J Clin Densitom
Graybeal AJ, Swafford SH, Compton AT, Renna ME, Thorsen T, Stavres J.   +5 more
europepmc   +1 more source

Reference Ranges for Bone Mineral Content and Density by Dual Energy X-Ray Absorptiometry for Young Children.

J Clin Endocrinol Metab, 2022
Kalkwarf HJ, Shepherd JA, Fan B, Sahay RD, Ittenbach RF, Kelly A, Yolton K, Zemel BS.   +7 more
europepmc   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source