Results 171 to 180 of about 55,731 (254)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Ultrasound monitoring of skeletal muscle wasting and relation to nutritional intervention in critically ill patients: MUScleNut study. [PDF]

Intensive Care Med Exp
Rosa Domingues C, C Rodeia S, Francisco AR, Santos L, Cerca C, Costa M, Pinto V, Fortuna P, Brito-Costa A, Bento L.   +9 more
europepmc   +1 more source

Cisplatin-Induced Muscle Wasting and Atrophy: Molecular Mechanism and Potential Therapeutic Interventions. [PDF]

J Cachexia Sarcopenia Muscle
Huang KC, Chiang YF, Ali M, Hsia SM.
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Mitigating Dexamethasone-Induced Muscle Wasting and Mitochondrial Impairment in Mice on a High-Fat and High-Sucrose Diet With Peanut Sprout Extract. [PDF]

Food Sci Nutr
Jo SM, Truong TMT, Jang HJ, Lim JH, Kang I.   +4 more
europepmc   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

The canonical ER stress IRE1α/XBP1 pathway mediates skeletal muscle wasting during pancreatic cancer cachexia. [PDF]

EMBO Mol Med
Joshi AS, Tomaz da Silva M, Vuong AT, Xu B, Singh RK, Kumar A.   +5 more
europepmc   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source