Results 281 to 290 of about 74,859 (354)

Obesity‐related early structural alterations in the retina detected by optical coherence tomography

Diabetes, Obesity and Metabolism, Volume 27, Issue 6, Page 3262-3273, June 2025.
Abstract Aims This retrospective cross‐sectional study, using retinal spectral‐domain optical coherence tomography (SD‐OCT) scans, investigated obesity‐related structural alterations in the retina. Materials and Methods Ninety‐two eyes of 92 healthy asymptomatic participants were categorized into two groups based on body mass index (BMI) measurements ...
Maide Gözde İnam, Onur İnam, Doru Gucer, James Park, Yasseen Amellal, Tongalp H. Tezel, Gülgün Tezel   +6 more
wiley   +1 more source

Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports. [PDF]

Medicine (Baltimore)
Feng Q, Zhang MQ, Ba CX, Zhang YQ.
europepmc   +1 more source

The effect of size on mate selection, fecundity and survival in Culex pipiens mosquitoes

Physiological Entomology, Volume 50, Issue 2, Page 204-215, June 2025.
Larval diet affects male and female adult size, female fecundity and female survival. Large non‐blood–fed females lived longer than small non‐blood–fed females. Mate size did not influence mating rate (insemination status). Even though larger females are more fit, males mated equally to large and small females when given the option. Blood feeding has a
Susan Villarreal, Amelia Senior, Matthew Price   +2 more
wiley   +1 more source

Transplantation and other aspects of surgery of the liver [PDF]

, 1984
Iwatsuki, S, Shaw, BW, Starzl, TE, Van Thiel, DH   +3 more
core  

Identification of a Founder GLDN Variant Associated With “Lethal” Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long‐Term Survivors' Management

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Biallelic variants in GLDN have recently been associated with lethal congenital contracture syndrome 11 (LCCS11), a form of fetal akinesia deformation sequence (FADS) with high neonatal mortality. In this report, we describe five individuals from two Canadian Inuit families originating from different communities in Nunavik all affected with ...
Alexa McAdam, Yoko A. Ito, Marilyn Richard, Dan Spiegelman, Daniel Rochefort, Lan Xiong, Maryam Oskoui, David Zielinski, Guy A. Rouleau, Sirui Zhou, Care4Rare Canada Consortium, Kym M. Boykott, Isabelle De Bie   +12 more
wiley   +1 more source

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II). [PDF]

Orphanet J Rare Dis
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT, and the MetabERN Subnetwork for Lysosomal Disorders.   +21 more
europepmc   +1 more source

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Hypertrophic cardiomyopathy (HCM) is rare in childhood, but it is associated with significant morbidity and mortality. Genetic causes of HCM are mostly related to sarcomeric genes abnormalities; however, syndromic, metabolic, and mitochondrial disorders play an important role in its etiopathogenesis in pediatric patients.
Silvia Kalantari, Daniele Veraldi, Davide Politano, Antonia Apicella, Riccardo Castagnoli, Thomas Foiadelli, Fulvio D'Abrusco, Elisa Giorgio, Angela Berardinelli, Alessia Claudia Codazzi, Gianluigi Marseglia, Enza Maria Valente, Fabio Sirchia   +12 more
wiley   +1 more source

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model. [PDF]

JCI Insight
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS.   +10 more
europepmc   +1 more source

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy

Arthritis &Rheumatology, Volume 77, Issue 5, Page 506-520, May 2025.
Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison, Sean P. Ferris, Marianne Kerski, Grace Hile, Sophia Matossian, Cara Komisar, Peter J. Strouse, Elizabeth Ames, Erin Neil Knierbein, Jessica L. Turnier   +9 more
wiley   +1 more source

Glycogen storage disease type III: a mixed-methods study to assess the burden of disease. [PDF]

Ther Adv Endocrinol Metab
Evins A, Mayhew J, Cimms T, Whyte J, Vong K, Hribal E, Evans CJ, Grimm A.   +7 more
europepmc   +1 more source