Results 211 to 220 of about 211,860 (282)

What Is the Impact of Obesity-Related Comorbidities on the Risk of Premature Aging in Patients with Severe Obesity?: A Cross-Sectional Study. [PDF]

Medicina (Kaunas)
Dudek A, Zapała B, Gorostowicz A, Kawa I, Ciszek K, Tylec P, Cyranka K, Sierocki W, Wysocki M, Major P.   +9 more
europepmc   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Inhibition of Ferroptosis Delays Aging and Extends Healthspan Across Multiple Species. [PDF]

Adv Sci (Weinh)
Fu HJ, Zhou XY, Qin DL, Qiao Q, Wang QZ, Li SY, Zhu YF, Li YP, Zhou JM, Cai H, Huang FH, Yu L, Wang L, Wu AG, Wu JM, Zhou XG.   +15 more
europepmc   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Evaluating swallowing capacity in older adults with dysphagia: high protein, low carbohydrate smoothie formulas versus commercial formula. [PDF]

BMC Geriatr
Mongkolsucharitkul P, Pinsawas B, Watcharachaisoponsiri T, Suta S, Pumeiam S, Ophakas S, Surawit A, Ongard S, Keskool P, Thitisakulchai P, Srichayet P, Mayurasakorn K.   +11 more
europepmc   +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

Association of polysocial risk score, cardiovascular health status, and the risk of premature mortality: Findings from the UK Biobank. [PDF]

J Nutr Health Aging
Shen W, Cai L, Wang B, Li J, Sun Y, Wang N, Lu Y.   +6 more
europepmc   +1 more source

Luspatercept for Transfusion‐Dependent Beta‐Thalassemia: Real‐World Experience in a Large Cohort of Patients From Italy

American Journal of Hematology, EarlyView.
Raffaella Origa, Barbara Gianesin, Antonietta Zappu, Anna Rita Denotti, Mary Ann Di Giorgio, Roberta Sciortino, Irene Motta, Daniele Lello Panzieri, Rosamaria Rosso, Anna Bulla, Martina Culcasi, Anna Maria Pasanisi, Lucia De Franceschi, Rosario Di Maggio, Valeria Maria Pinto, Paola Maria Grazia Sanna, Paolo Ricchi, Giovan Battista Ruffo, Francesca Schieppati, Domenico Roberti, Giovanni Battista Ferrero, Elisa De Michele, Francesco Arcioni, Ilaria Fotzi, Sarah Marktel, Antonella Poloni, Giulia Soverini, Epifania Rita Testa, Giusy Cabiddu, Carmelo Fortugno, Antonia Gigante, Francesca Polese, Davide Rapezzi, Antonella Sau, Gian Luca Forni, Maria Domenica Cappellini, Filomena Longo   +36 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source