Results 161 to 170 of about 43,008 (246)

Antenatal diagnosis and maternal sirolimus treatment of polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Background Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome is a rare autosomal recessive mTORopathy caused by biallelic STE20‐related kinase adaptor alpha (STRADA) loss‐of‐function variants. Animal models demonstrate that in utero mechanistic target of rapamycin (mTOR) inhibition can prevent cortical dyslamination ...
Christian Macedonia, Vincent J. Carson, D. Holmes Morton, Karin J. Blakemore, Mark I. Evans, Peter B. Crino   +5 more
wiley   +1 more source

Advantages of optical coherence tomography in assessing retinal astrocytic hamartomas in children with tuberous sclerosis complex. [PDF]

Front Med (Lausanne)
Dou G, Zhou Z, Sun J, Zhang Z, Wang C, Sun D, Zhu J, Zhu Y, Zhang H, Wang Q, Li M, Deng Y, Wang Y.   +12 more
europepmc   +1 more source

Morphological patterns of fetal lateral ventricular border irregularities: descriptive study

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 5, Page 635-645, May 2026.
ABSTRACT Objectives Alterations in the lateral ventricular borders have been documented in the prenatal diagnosis of certain fetal brain conditions. This study aimed to describe and classify the morphological patterns of lateral ventricular border irregularities (LVBI) and to discuss possible etiologies.
E. Hadi, A. Sorotzkin, L. Haddad, E. Kassif, C. Hoffmann, S. Shrot, S. Shoob, A. Shariv, Y. Mizrachi, M. Levy, Z. Leibovitz, T. Lerman‐Sagie, L. Gindes   +12 more
wiley   +1 more source

Real-world management of tuberous sclerosis complex-associated renal angiomyolipomas: the impact of mTOR inhibitors. [PDF]

Clin Kidney J
Gemander N, Dao M, Kalbacher E, Fantoni JC, Provot F, Correas JM, Joly D.   +6 more
europepmc   +1 more source

Patella baja post tibial plateau levelling osteotomy on a 7‐year‐old Bichon Frise

Veterinary Record Case Reports, Volume 14, Issue 2, May 2026.
Abstract A 7‐year‐old, male, neutered Bichon Frise presented with a 3‐month history of intermittent lameness 18 months post tibial plateau levelling osteotomy as treatment for cranial cruciate ligament rupture. On the physical examination, hyperextension of the right stifle joint was detected.
Georgios Vlachomitros, Mark Alexander Bush   +1 more
wiley   +1 more source

Exploring the use of smartphone monitoring for young adults with Tuberous Sclerosis Complex (TSC): a qualitative analysis. [PDF]

Orphanet J Rare Dis
Fifield K, Blackford K, Snaith B, Singhania A, Tye C, Simblett S.   +5 more
europepmc   +1 more source

Ultrasonographic diagnosis of caudoproximal humeral stress fracture in thoroughbred racehorses

Equine Veterinary Journal, Volume 58, Issue 3, Page 788-796, May 2026.
Abstract Background Humeral stress fractures in racehorses can progress to catastrophic fracture if unrecognised. Scintigraphy is the gold standard diagnostic technique but is limited by accessibility and cost. It was hypothesised that ultrasonography could be used to visualise caudoproximal humeral stress fractures. Objectives To determine the utility
Betsy Vaughan, Erin R. McKerney, Carolyn Wollenberger, Ashton Cloninger, Mathieu Spriet, Larry Galuppo, Susan M. Stover   +6 more
wiley   +1 more source

Tuberous sclerosis complex: everything old is new again [PDF]

, 2009

core   +1 more source

LAT1/SLC7A5‐mediated amino acid uptake is regulated by redox signals triggered by formyl‐peptide receptor 2

The FEBS Journal, Volume 293, Issue 9, Page 2637-2655, May 2026.
FPR2 activation mediates NOX‐dependent LAT1 expression and, in turn, promotes mTORC1 signaling. Upon stimulation with WKYMVm, the FPR2‐NOX2‐ROS axis upregulates LAT1 via increased c‐Myc phosphorylation and decreased miR‐126. Additionally, it promotes CD98 translocation to the plasma membrane.
Myrhiam Cassese, Chiara Brignola, Stefano Marrone, Gabriella Esposito, Rosario Ammendola, Fabio Cattaneo   +5 more
wiley   +1 more source

Correction: Gut microbiota signatures in tuberous sclerosis complex and epilepsy: a pilot study. [PDF]

Front Neurosci
Ottaviano E, Marsiglia MD, Ceccarani C, Ancona S, Triva F, La Briola F, Bergamoni S, Teutonico F, Pompili A, Viganò I, Ricci E, Vignoli A, Borghi E.   +12 more
europepmc   +1 more source