Results 61 to 70 of about 36,696 (264)

Glycogen storage disease presenting as Cushing syndrome

open access: yesJIMD Reports, 2019
Impaired growth is common in patients with glycogen storage disease (GSD), who also may have “cherubic” facies similar to the “moon” facies of Cushing syndrome (CS). An infant presented with moon facies, growth failure, and obesity. Laboratory evaluation
Margaret A. Stefater   +3 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman   +18 more
wiley   +1 more source

Exercise‐specific plasma proteomic signatures in racehorses: Candidates for training adaptation and peak load monitoring

open access: yesEquine Veterinary Journal, EarlyView.
Abstract Background Racehorses undergo profound physiological changes with training and competition, but current biomarkers inadequately capture the complex molecular dynamics of exercise. This study aimed to identify novel plasma biomarkers of training adaptation and peak load using high‐throughput proteomics.
Jowita Grzędzicka   +4 more
wiley   +1 more source

Clinical periodontal diagnosis

open access: yesPeriodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi   +5 more
wiley   +1 more source

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia

open access: yesThe Turkish Journal of Pediatrics, 2018
Glycogen storage disease type 0 (GSD0) has been considered a rare disorder, it is characterized with ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia.
Bülent Hacıhamdioğlu   +4 more
doaj   +1 more source

Bile acid metabolism and signaling in human and animal health: A One Health perspective

open access: yesiMetaOmics, EarlyView.
Bile acids maintain host homeostasis through enterohepatic circulation, microbial transformation, and bile acid receptor signaling, thereby regulating glucose and lipid metabolism, intestinal barrier integrity, and immunity. These effects support human disease intervention and health‐oriented animal production, reducing drug dependence and residue ...
Lei Li   +7 more
wiley   +1 more source

Microbiome and aging: Trajectories of microbiome age across human ecosystems and their systemic effects

open access: yesiMeta, EarlyView.
Microbiome age (MA) has emerged as an innovative biomarker of biological aging, reflecting host aging trajectories through dynamic alterations in microbial composition, function, and host–microbe interactions across multiple body ecosystems. Diverse computational strategies—including traditional machine learning, deep learning, and multi‐omics ...
Zhexin Ni   +26 more
wiley   +1 more source

The plant microbiome: From ecological foundations to precision microbial engineering for sustainable agriculture

open access: yesiMeta, EarlyView.
From ecological principles to precision engineering of plant microbiomes for sustainable agriculture. The plant holobiont integrates diverse microbial niches (including rhizosphere, endosphere, phyllosphere, seed, and aerial‐root mucilagesphere), host genetics (namely M genes), and host metabolites. Furthermore, molecular dialogues, including rhizobial
Mi Wei   +26 more
wiley   +1 more source

The regulation of stem cell fate and its application in neural regeneration

open access: yesInterdisciplinary Medicine, EarlyView.
Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He   +3 more
wiley   +1 more source

GSK3β drives early diabetic tubulopathy via TFEB‐mediated mitochondrial dysfunction

open access: yesInterdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction, including mitochondrial biogenesis, mitophagy, dynamics and oxidative stress, occurs in the early stages of diabetic tubulopathy, which precede proteinuria and renal histological changes. GSK3β is a potential novel biomarker for the prediction of diabetic tubulopathy.
Lan Yao   +10 more
wiley   +1 more source

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