Results 181 to 190 of about 274,248 (306)

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +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

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source

From armadillos to sloths: Patterns and variations in xenarthran coronary anatomy

The Anatomical Record, EarlyView.
Abstract Species of the superorder Xenarthra play a vital ecological role in the Neotropics. Despite their evolutionary significance, anatomical studies on their coronary circulation remain scarce. This study investigated the coronary anatomy of 82 hearts from nine Xenarthra species across the Dasypodidae, Myrmecophagidae, and Bradypodidae.
Wilson Viotto‐Souza, André Luiz Quagliatto Santos, Marcelo Abidu‐Figueiredo, Thaís Aparecida Silva, Rodrigo Ananias Barreiros Silva, Paulo de Souza‐Junior   +5 more
wiley   +1 more source

Age‐related differences in hydroxychloroquine‐associated adverse events: A pharmacovigilance study based on the FDA Adverse Event Reporting System

British Journal of Clinical Pharmacology, EarlyView.
Aims This real‐world pharmacovigilance study utilizes FDA Adverse Event Reporting System (FAERS) data (2004–2024) to characterize age‐related disparities in hydroxychloroquine (HCQ)‐associated adverse events (AEs), addressing gaps in age‐stratified risk assessment. Methods Disproportionality analysis (reporting odds ratios, RORs) and parametric Weibull
Guanghan Sun, Jingrong Yang, Lei Wan, Xia Xu, Jing Wang   +4 more
wiley   +1 more source

Possible therapeutic repositioning of valproic acid: From epileptic seizures to acute kidney injury

British Journal of Clinical Pharmacology, EarlyView.
Valproic acid, an anticonvulsant, may be repositioned to prevent acute kidney injury due to ischemia followed by reperfusion. It preserves renal functions, electrolyte homeostasis and active sodium transport in kidney tubules, and blocks the onset of hypertension.
Danilo Alves‐Bezerra, Luiza B. Negreiros, Amaury Pereira‐Acácio, Isadora G. Almeida, João P. M. Veloso‐Santos, Jarlene A. Lopes, Glória Costa‐Sarmento, Humberto Muzi‐Filho, Adalberto Vieyra   +8 more
wiley   +1 more source

Pre-hospital management of traumatic cardiac arrest 2024 position statement: Faculty of Prehospital Care, Royal College of Surgeons of Edinburgh

Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine
Celestine Weegenaar, Zane Perkins, David Lockey   +2 more
doaj   +1 more source

Temperature Control After In-Hospital Cardiac Arrest: Outcomes From the Discover In-Hospital Cardiac Arrest Cohort. [PDF]

Crit Care Med
Andrea L, Berg KM, Johnson NJ, Mitchell OJL, Pearce AK, Green A, Elmer J, Huespe IA, Lanspa MJ, Davis GR, Peltan ID, Herman NS, Malhotra R, Bangar MD, Peterson LN, Wadud N, Mayfield H, Vaena M, Valdez P, Howard TE, Loewe MR, Faiver L, Tam J, Halablab SM, Kaviyarasu A, Baram M, Chan V, Crisci T, Rosal N, Ghamande SA, White HD, Anderson B, Dugar S, Mehkri O, Saleem T, Vine J, Lee JH, Norton DL, Gaillard JP, Wachs T, Herbert JT, Krishnamoorthy V, Wardi G, Long MT, Craigova L, DeMasi SC, Shipley K, Khan A, Schnittke N, Hubel K, Crowley CP, Hansen CK, Dodd KW, Choudhury S, March C, Martinez A, Reyes A, Joffe AM, Bui A, Denchev K, Bissell Turpin BD, Fowajuh R, Ward J, Khan A, Chang C, Richieri E, Mirofsky M, Sagardia J, Piezny D, Gira AR, Cunto E, Khan R, Al-Hakim T, Gong MN, Moskowitz A, Discovery, the Critical Care Research Network of the Society of Critical Care Medicine.   +76 more
europepmc   +1 more source

Ocrelizumab‐induced colitis: VigiBase disproportionality analysis, case reports and literature review

British Journal of Clinical Pharmacology, EarlyView.
Aims Ocrelizumab is a humanized anti‐CD20 monoclonal antibody used in multiple sclerosis. Since its commercialization, several cases of ocrelizumab‐induced colitis have been reported in the scientific literature. Methods To explore the potential association of ocrelizumab with colitis as an adverse drug reaction (ADR), we conducted a descriptive and ...
Audrey Fresse, Christophe Hommel, Nadine Petitpain, Philippe Kerschen   +3 more
wiley   +1 more source