Results 91 to 100 of about 9,841 (192)

Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling

Brain and Behavior, Volume 15, Issue 11, November 2025.
We report a 32‐year‐old female patient with SANDO syndrome (a subtype of mitochondrial encephalomyopathy), who carries two heterozygous POLG mutations: a novel c.3297G>C and a known c.1774C>T. The neuronal models expressing these mutations demonstrated mitochondrial dysfunction, thereby confirming their pathogenicity.
Fanjing Zhou, Jiang Chen, Tingzheng Zhang, Fengnan Niu, Jinglong Hu, Yun Xu, Meijuan Zhang   +6 more
wiley   +1 more source

Response to sequential treatment with prednisolone and vigabatrin in infantile spasms. [PDF]

J Paediatr Child Health, 2022
Dzau W, Cheng S, Snell P, Fahey M, Scheffer IE, Harvey AS, Howell KB.   +6 more
europepmc   +1 more source

Comprehensive Framework for Oncology Pharmacist‐Led Parenteral Anticancer Therapy Patient Education: The Opinion of the American College of Clinical Pharmacy Hematology/Oncology Practice and Research Network

JACCP: JOURNAL OF THE AMERICAN COLLEGE OF CLINICAL PHARMACY, Volume 8, Issue 11, Page 1202-1214, November 2025.
This narrative review summarizes evidence for effective patient education on parenteral anticancer therapies. The authors propose a structured framework for oncology pharmacist‐led patient education on parenteral anticancer therapies that combines pharmacotherapy knowledge and the application of patient‐centered care.
Erin Hickey Zacholski, Jack Dierckes, David Hartnett‐Quach, Cady Noda, Amanda Sharps, Olivia White, Kyle Zacholski, Shawn P. Griffin   +7 more
wiley   +1 more source

EEG biomarkers for the diagnosis and treatment of infantile spasms. [PDF]

Front Neurol, 2022
Romero Milà B, Remakanthakurup Sindhu K, Mytinger JR, Shrey DW, Lopour BA.   +4 more
europepmc   +1 more source

Hypothalamic Hamartoma and Infantile Spasms [PDF]

, 2006
John Kerrigan, Yu‐Tze Ng, Erin Prenger, Kalpathy S. Krishnamoorthy, Norman C. Wang, Harold L. Rekate   +5 more
openalex   +1 more source

Prominent Chiari Network as a Cause of Cyanosis in Infants: A Case Report and Implications for Pediatric Cardiology Practice

Journal of Clinical Ultrasound, Volume 53, Issue 9, Page 2172-2177, November/December 2025.
A prominent Chiari network can cause cyanosis in infants by inducing a positional right‐to‐left atrial shunt. Accurate diagnosis enabled conservative management, delaying surgery until optimal conditions. This case emphasizes the importance of echocardiographic evaluation in differentiating cyanosis mechanisms to guide appropriate treatment in ...
Carmen Rodríguez‐Barrios, Irene Gutierrez‐Rosa, Moises Rodriguez‐Gonzalez   +2 more
wiley   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

More Hormones, Less Spasms: IGF-1 as a Potential Therapy for Infantile Spasms. [PDF]

Epilepsy Curr, 2023
Dang LT.
europepmc   +1 more source

Infantile spasms followed by childhood absence epilepsy: A case series [PDF]

, 2019
Lucio Giordano, Renato Tambucci, Isabella Cocco, Marco Angriman, Giangennaro Coppola, Francesca Felicia Operto, Giovanni Farello, Salvatore Savasta, Vincenzo Belcastro, Alberto Verrotti   +9 more
openalex   +1 more source

Clinical profile of vigabatrin as monotherapy for treatment of infantile spasms

Neuropsychiatric Disease and Treatment, 2010
Jason T Lerner1, Noriko Salamon2, Raman Sankar1,31Departments of Pediatrics, 2Radiological Sciences, 3Neurology, David Geffen School of Medicine, University of California Los Angeles and Mattel Children’s Hospital at UCLA, Los Angeles, CA ...
Jason T Lerner, Noriko Salamon, Raman Sankar   +2 more
doaj