Results 211 to 220 of about 3,118,093 (252)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Bilateral bow hunter's syndrome at the craniocervical junction: illustrative case. [PDF]

J Neurosurg Case Lessons
Bernabei JM, Patel A, Yamada H, Elguindy MM, Tan LA, Raper DMS.   +5 more
europepmc   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Compact FPGA-based software correlator for real-time blood flow measurement with diffuse correlation spectroscopy. [PDF]

Biomed Opt Express
Mai VK, Raghu V, Mohammad PPS, Valenzuela T, Parthasarathy AB.   +4 more
europepmc   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour, Lane Donaldson, Khaled Kashlan, Swapna Vemuri, Jun Jin, John R. Craig   +5 more
wiley   +1 more source

Dental Occlusion Measurement: A Methodological Evaluation to Improve Clinical Gnathology. [PDF]

Sensors (Basel)
Rosati R, Henin D, Pellegrini G, Sfondrini MF, Scribante A, Carmagnola D, Dellavia C.   +6 more
europepmc   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source

Phenotype-based modeling of postoperative ventilatory liberation failure: A dynamic mechanistic framework for precision perioperative medicine. [PDF]

J Anesth Transl Med
Bouya MS, Najout H, Bouhabba N.
europepmc   +1 more source

Animal stroke models and outcome evaluation: A review

Animal Models and Experimental Medicine, EarlyView.
Rodents are the preeminent stroke model species. Large animal models exist too, but are poorly standardized. Ischemic and hemorrhagic experimental models are available, with the intraluminal filament model being predominant. Outcomes are evaluated via quantifying subjects' sensorimotor impairment, cognitive memory faculties, degree of cellular ...
Solsa Cariba, Helen M. Atkinson, Anthony K. C. Chan   +2 more
wiley   +1 more source

Acute neuromuscular and short-term recovery responses to low-load exercise with individualized blood flow restriction in elite male volleyball players. [PDF]

Sci Rep
Zhang X, Zhang X, Liu S, Lu B, Sun X, Zhang Z.   +5 more
europepmc   +1 more source