Results 141 to 150 of about 47,534 (256)

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

Nail gun penetrating cervical spine injury at C4-5 with spinal canal violation, neurological deficit, and esophageal perforation treated by anterior cervical surgery: illustrative case. [PDF]

J Neurosurg Case Lessons
Peng C, Peng Z.
europepmc   +1 more source

Neuroprotection after transient middle cerebral artery occlusion in male rats using kojic acid nanostructured lipid carriers: A behavioral, biochemical, and histological study on hippocampal CA1 region

Animal Models and Experimental Medicine, EarlyView.
This study demonstrates that kojic acid–loaded nanostructured lipid carriers (KA‐NLC) provide significant neuroprotection in a male rat model of middle cerebral artery occlusion (MCAO)–induced stroke. Treatment with KA‐NLCs reduced cerebral edema, improved motor and coordination balance and neurological scores, and enhanced spatial and avoidance memory.
Mobina Gheibi, Erfan Ghadirzadeh, Javid Tebyani, Seyedeh Mohadeseh Moyaedi, Khadijeh Khezri, Majid Saeedi, Ali Siahposht‐Khachaki, Narges Karimi, Melika Pourhossein, Shiva Shadi, Sasan Shafiei, Atena Sharifi‐Razavi   +11 more
wiley   +1 more source

The Impact of Chronic Severe Preoperative Local Infection on Postoperative Complications and Recurrence Following Winograd Procedure for Ingrown Toenail of the Great Toes: A Retrospective Cohort Study. [PDF]

J Clin Med
Yun JY, Suh JS, Lee YB, Choi JY.
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

Pigmented squamous cell carcinoma in situ of the nail: An important differential diagnosis of melanonychia striata—Evaluation by dermatoscopy and in vivo confocal microscopy

JAAD Case Reports
Juliana Areas de Souza Lima B. Ferreira, MD, Juliana Casagrande Tavoloni Braga, Eduardo Bertolli, Clovis Antonio Lopes Pinto, MD, PhD   +3 more
doaj   +1 more source

Squamous Cell Carcinoma of Finger Invading Middle Phalanx: Surgical Considerations. [PDF]

Plast Reconstr Surg Glob Open
Podber A, Samuel S, Reddy G.
europepmc   +1 more source

Accelerated Brain Atrophy in Epilepsy: A Prospective Population‐Based Study

Annals of Neurology, EarlyView.
Objective Previous longitudinal neuroimaging studies suggest that epilepsy is a progressive disorder. To date, these findings have relied largely on populations from tertiary centers, resulting in ascertainment bias, as severely affected individuals are more likely to be rescanned.
Marian Galovic, Rebecca S. N. Liu, Alex D. Everitt, Robert Terziev, Louis Lemieux, Matthias J. Koepp, John S. Duncan   +6 more
wiley   +1 more source

Three Pediatric Cases of Accidental Lip Entrapment, Laceration, and Tongue Injury From Motorized Electric Nail Trimmers. [PDF]

Am J Case Rep
Hommady MH, Alqahtani AA, Almalki AG, Al-Saleh AM, Alanazi LS, Tarabzoni OE, Abaalkhail AK, Alatawi AA.   +7 more
europepmc   +1 more source

Therapeutic Prospects of Ketamine for Cataplexy in Narcolepsy Type 1: Evidence from a Human Case and a Murine Model

Annals of Neurology, EarlyView.
Narcolepsy type 1 is characterized by cataplexy, for which current treatments targeting monoaminergic, histaminergic, and GABAergic pathways may be ineffective or poorly tolerated. We report the case of a 34‐year‐old man with narcolepsy type 1, intolerant to standard therapies, who experienced marked and sustained cataplexy reduction with morning ...
Francois Ricordeau, Sebastien Arthaud, Leila Langbour, Silvia Melzi, Aurelie Richard‐Mornas, Hannah Doudoux, Benjamin Rolland, Laure Peter‐Derex, Christelle Peyron   +8 more
wiley   +1 more source