Results 131 to 140 of about 24,840 (206)

Impact of prenatal sirolimus on cardiac rhabdomyomas and brain tubers

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 3, Page 350-359, March 2026.
ABSTRACT Objective To document the natural progression of fetal cardiac rhabdomyomas and evaluate the impact of prenatal sirolimus (PNS) on tumor size, cardiac complications and brain‐tuber size. Methods This was a single‐center retrospective cohort study of pregnancies with suspected fetal cardiac rhabdomyoma referred to our center from April 2013 to ...
S. Vergote, L. Van der Veeken, D. Chitayat, E. Jaeggi, G. Ryan, E. Miller, S. Shinar   +6 more
wiley   +1 more source

Late diagnosis and effective everolimus treatment in a familial case of tuberous sclerosis complex: a case report. [PDF]

Front Genet
Dai F, Duan Y, Di BA, Feng Q, Cui J, Lv T.   +5 more
europepmc   +1 more source

Maternal Child‐Directed Speech Toward Children With Infantile Spasm or West Syndrome

International Journal of Language &Communication Disorders, Volume 61, Issue 2, March/April 2026.
ABSTRACT Background Maternal child‐directed speech (MCDS) plays a critical role in early language and communicative development, yet little is known about how it adapts to neurodevelopmental conditions such as Infantile Spasms/West Syndrome (WS), particularly when co‐occurring with intellectual disability (WID) or autism spectrum disorder (WASD).
Le Normand M.T., Christelle Gosme, Marluce Leitgel‐Gille, Roberta Simas, Xavier Jeudon, Bernard Golse, Lisa Ouss   +6 more
wiley   +1 more source

High prevalence of orocutaneous features in Yemeni patients with tuberous sclerosis complex. [PDF]

JAAD Int
Alshami MA, Al-Shami AM, Mohana MJ, Mohammed Al-Sayaghi AA, Alshami HM.   +4 more
europepmc   +1 more source

Dysmorphic neurons express markers of inhibitory glycinergic signaling in focal cortical dysplasia IIb

Brain Pathology, Volume 36, Issue 2, March 2026.
Deep learning tissue mapping can guide region of interest selection for spatial transcriptomic analyses. Using this method, a transcriptional catalogue of focal cortical dysplasia type IIb was generated, revealing enrichment for markers of inhibitory glycinergic signaling in cytomegalic dysmorphic neurons.
Ameesha Paliwal, Kevin Faust, Okty Abbasi Borhani, Mugeng Liu, Lauren Omoto, Evelyn Rose Kamski‐Hennekam, Parsa Babaei Zadeh, Rifat Shahriar Sajid, Phedias Diamandis   +8 more
wiley   +1 more source

Cardiac rhabdomyomas in tuberous sclerosis complex: clinical manifestations and genotype correlations. [PDF]

BMC Pediatr
Praticò AD, Lo Bianco M, Laganà A, Di Napoli C, Salafia S, Sciacca P, Polizzi A, Ruggieri M.   +7 more
europepmc   +1 more source

Ictal vomiting as the first manifestation of Tuberous Sclerosis Complex: report of two pediatric cases. [PDF]

Ital J Pediatr
Cuzzola E, Massara S, Sforza G, Voci A, Proietti Checchi M, Mazzone L, Valeriani M, Moavero R.   +7 more
europepmc   +1 more source

Alpha‐Actinin‐3 Deficiency Links Genetic Susceptibility to Renal Fibrosis: Evidence From Hemodialysis Patients and Murine Models

The FASEB Journal, Volume 40, Issue 4, 28 February 2026.
This study links the ACTN3 R577X polymorphism to chronic kidney disease (CKD), specifically in patients undergoing hemodialysis (HD). In parallel, increased Actn3 expression in murine models of kidney injury supports a functional role for ACTN3 in renal pathophysiology.
Raisa B. Santos, Hellena Storch Vieira, Alice K. Scheer, Larissa R. Ribeiro, Cledia F. Silva, Rafael B. Orcy, Ines Schadock, Alexandre Budu, Ronaldo Carvalho Araujo, Augusto Schneider, André F. Rodrigues, Michael Bader, Maristela Böhlke, Carlos Castilho Barros   +13 more
wiley   +1 more source

Renal Function Outcomes in Tuberous Sclerosis Complex Patients Receiving Everolimus for Renal Angiomyolipoma. [PDF]

Eur Urol Open Sci
Liao Z, Wang W, Zhao Y, Liu Y, Qiu D, Zhang Y.   +5 more
europepmc   +1 more source

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