Results 111 to 120 of about 20,402 (244)

Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm

Orphanet Journal of Rare Diseases
Background Late-onset Pompe’s disease (LOPD) is a progressive treatable metabolic myopathy due to partial acid α-glucosidase (GAA) deficiency, with potential onset during the pediatric age.
Marco Spada, Serena Gasperini, Massimiliano Filosto, Guja Astrea, Beatrice Bracci, Claudio Bruno, Alberto Burlina, Anna Cavallini, Daniela Concolino, Viola Crescitelli, Adele D’Amico, Federica Deodato, Carlo Dionisi-Vici, Maria Alice Donati, Simona Fecarotta, Rita Fischetto, Agata Fiumara, Francesca Furlan, Vincenza Gragnaniello, Damiano Mala, Monica Marica, Francesca Menni, Veronica Pagliardini, Claudia Panicucci, Giancarlo Parenti, Andrea Pession, Federica Ricci, Valentina Rovelli, Michele Sacchini, Filippo Maria Santorelli, Lucia Santoro, Maurizio Scarpa, Roberta Taurisano, Albina Tummolo, Francesco Porta   +34 more
doaj   +1 more source

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

Background Glycogen storage disease type IV (GSD IV) is an ultrarare autosomal recessive disorder that causes deficiency of functional glycogen branching enzyme and formation of abnormally structured glycogen termed polyglucosan. GSD IV has traditionally
Rebecca L. Koch, Gilda Porta, William R. Jeck, Seema Alam, Vikrant Sood, Claudia Soler-Alfonso, Leticia S. Flores, Priya S. Kishnani, Bridget T. Kiely, Katy LaVecchio, Su Jin Choi   +10 more
core   +1 more source

Physiological Basis of Sex Differences in Human Performance and Exercise‐Associated Pathology

Clinical Endocrinology, EarlyView.
ABSTRACT The presence of sex differences in human physical performance is well‐established and shaped by distinct endocrine, anatomical and physiological mechanisms. Despite sustained advances, our understanding of how inherent biological factors drive variations in exercise capacity and related pathologies is still developing.
David A. Holdsworth, Thomas J. O'Leary, Craig L. Doig, Natalie Taylor, Jasminder Dosanjh, David R. Woods, Michael J. Stacey, Robert M. Gifford   +7 more
wiley   +1 more source

Inositol and Berberine Synergistically Reprogram Endocrine and Ovarian Metabolism in Polycystic Ovary Syndrome

Cell Proliferation, EarlyView.
In a DHEA+HFD‐induced mouse model, Ins/BBR alleviated mitochondrial defects and broadly reprogrammed metabolic landscape in granulosa cells, in specific, restoring nucleotide pools and amino acid turnover, and preventing abnormal long‐chain fatty acid accumulation.
Juan Ge, Chenxiang Zhang, Yilong Zhao, Haiyang Zhao, Shuai Zhu, Tao Tang, Guorui Zhang, Qiang Wang, Hui Wang   +8 more
wiley   +1 more source

SCD2 Alleviates Diabetes‐Associated Cognitive Dysfunction by Improving Microglial Lipid Metabolism

Cell Proliferation, EarlyView.
This study reveals a novel mechanism of microglial metabolic dysfunction in diabetic cognitive impairment. Defective SCD2 disrupts monounsaturated fatty acid (MUFA) metabolism, triggering mitochondrial oxidative phosphorylation dysfunction and leading to abnormal lipid droplet accumulation (marked by PLIN2).
Yang Yang, Juan He, Jing Zheng, Bing Shao, Lixin Shi, Miao Zhang   +5 more
wiley   +1 more source

Aerobic Exercise Training Increases Circulating sRAGE in Adults With Type 2 Diabetes: Associations With Sheddase Regulation

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Objective Soluble receptor for advanced glycation end‐products (sRAGE) and soluble Toll‐like receptor 4 (sTLR4) are circulating pattern recognition receptor isoforms implicated in inflammatory regulation in type 2 diabetes mellitus (T2DM). This study examined the effects of supervised aerobic exercise training (AET) on circulating sRAGE, sTLR4,
Ryan K. Perkins, Corey E. Mazo, James Shadiow, Pallavi Varshney, Edwin R. Miranda, Victoria R. Miranda, Maggie Eisenberg, Jane E. Nakamura, Elif A. Oral, Jacob M. Haus   +9 more
wiley   +1 more source

Hypercortisolism: Causes, Consequences and Clinical Significance – A Review of Pathophysiology

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Hypercortisolism or Cushing syndrome is a heterogeneous clinical spectrum caused by chronic glucocorticoid excess, ranging from exogenous Cushing syndrome to rare endogenous aetiologies and the increasingly recognised entity of mild autonomous cortisol secretion (MACS). Physiological cortisol production is tightly regulated by the hypothalamic–
Mohamed Eldib, Francisco Emilio Fierro, Maria Ortega Abad, Ricardo Correa   +3 more
wiley   +1 more source

Metabarcoding of Pollen Carried by Syrphids Reveals Novel Plant–Pollinator Interactions in a Protected Natural Area and Agricultural Sites

Entomologia Experimentalis et Applicata, EarlyView.
Using DNA metabarcoding, this study investigates pollen transported by syrphids (Syrphidae) in the Dolomiti Bellunesi National Park and agricultural sites in Northern Italy. The analysis reveals a high diversity of visited plant taxa, including previously undocumented plant–pollinator interactions.
Serena Magagnoli, Daniele Sommaggio, Claudio Ratti, Riccardo Baroncelli, Andrea Menicucci, Enrico Vettorazzo, Giovanni Burgio   +6 more
wiley   +1 more source

Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis

Health Technology Assessment
Background Late-onset Pompe disease is a rare inherited genetic condition that causes progressive muscle dysfunction and damage. As the disease advances, the progressive weakening of respiratory muscles significantly increases the risk of respiratory ...
Mark Corbett, Chinyereugo Umemneku-Chikere, Sarah Nevitt, Nyanar Jasmine Deng, Matthew Walton, Helen Fulbright, Chong Yew Tan, Robin Lachmann, Rachel Churchill, Robert Hodgson   +9 more
doaj   +1 more source

Angiotensin mediates renal fibrosis in the nephropathy of glycogen storage disease type Ia

, 2008
Patients with glycogen storage disease type Ia (GSD-Ia) develop renal disease of unknown etiology despite intensive dietary therapies. This renal disease shares many clinical and pathological similarities to diabetic nephropathy.
Pan, C.-J., Peng, W.-T., Starost, M.F., Chou, J.Y., Yiu, W.H., Mansfield, B.C., Ruef, R.A.   +6 more
core   +1 more source