Results 101 to 110 of about 15,155 (248)

Complejo de la esclerosis tuberosa, revisión de tema y presentación de caso

Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica, 2019
La esclerosis tuberosa fue descrita por primera vez en 1880 y corresponde a un trastorno autosómico dominante, en el que se ha identificado la mutación de dos genes responsables de la enfermedad.
Vanessa Torres, Gustavo Adolfo Contreras, Norma Serrano, María Carolina Páez, María Claudia Guzmán   +4 more
doaj  

Cowden syndrome: Familial presentation and genetic insights

Indian Journal of Community and Family Medicine
Cowden syndrome (CS), primarily driven by PTEN gene mutations, leads to aberrant cell proliferation and presents with characteristic manifestations including multiple hematomas, hamartomatous polyps, and trichilemmomas.
K. C. Shashidhara, Keerthi Yenamala, Prajval Reddy Nachu, L. K. Prajwal, Sai Surya Chukkapalli   +4 more
doaj   +1 more source

Levodopa‐Responsive Parkinsonism Preceded by Isolated Upper Limb Tremor Associated with PTEN Variant

Movement Disorders Clinical Practice, EarlyView.
Sacha E. Gandhi, Rekha Siripurapu, Audrey Smith, Christopher Kobylecki   +3 more
wiley   +1 more source

Attrition in a telehealth caregiver‐mediated behavioral intervention for children with tuberous sclerosis complex: A mixed‐methods study

Developmental Medicine &Child Neurology, EarlyView.
Exploratory quantitative analyses suggested that higher seizure severity and COVID‐era enrollment were associated with lower intervention completion, while qualitative findings identified cumulative caregiver burden, medical instability, competing demands, and perceived intervention fit as contributors to attrition.
Carly Hyde Tillis, Connie Kasari, Nicole McDonald, Monique Vobecky, Maria Pizzano, Jonathan Panganiban, Brandon Gharapetian, Elise Y. Tran, Charles A. Nelson, Elizabeth A. Thiele, Shafali Jeste   +10 more
wiley   +1 more source

Pathophysiology of developmental and/or epileptic encephalopathy with spike–wave activation in sleep: A diagnostic framework

Developmental Medicine &Child Neurology, EarlyView.
This review integrates emerging evidence on the pathophysiology of D/EE‐SWAS, highlighting the role of disrupted sleep homeostasis and thalamocortical network dysfunction. We propose a clinically applicable diagnostic framework that combines sleep EEG, structural imaging, genomic testing and longitudinal neuropsychological assessment to improve ...
Aysha Rasheed, Shivani Sekar, Rameez Naqvi, Manidipa Dutta, Manal Issa, Angeliki Menounou, Deepa Krishnakumar, Thiloka Ratnaike   +7 more
wiley   +1 more source

Building a precision therapeutics program at a tertiary care children's hospital

Pediatric Investigation, EarlyView.
Luke Hamilton, Heidi Trinkman, Diana Carrasco, Kaitlin Smith, Kelly Vallance, Alejandra Dominguez, Danielle Miller, Megan Gibbs, Anish Ray   +8 more
wiley   +1 more source

HMGA2 is a highly sensitive marker for DICER1‐related tumours

Histopathology, EarlyView.
Aims DICER1 is a microRNA biogenesis enzyme that, when mutated, results in a rewiring of the transcriptome. Germline pathogenic variants (PVs) in DICER1 result in DICER1‐related tumour predisposition (DRTP) characterized by 30 or more different, generally rare, paediatric or adolescent‐onset tumours.
Paul S. Thorner, Anne‐Laure Chong, Naciba Benlimane, Lili Fu, Marc R. Fabian, William D. Foulkes   +5 more
wiley   +1 more source

Oral Rhabdomyomatous Hamartoma in a Paediatric Patient: Case Report a Rare Lesion

International Journal of Paediatric Dentistry, EarlyView.
ABSTRACT Background Rhabdomyomatous hamartoma is a rare congenital lesion, usually described on the face and neck and infrequently found in the oral cavity. Because its clinical presentation is non‐specific, histopathological examination plays a fundamental role in establishing the final diagnosis and determining appropriate therapeutic management ...
Érika Machado do Carmo Albuquerque, Letícia Albuquerque Rodrigues, Gislayne Nunes de Siqueira, Marcelo Bonifácio da Silva Sampieri, Filipe Nobre Chaves, Denise Hélen Imaculada Pereira de Oliveira   +5 more
wiley   +1 more source

18F-FDG PET/CT Diagnosis of Bronchopulmonary Carcinoids Versus Pulmonary Hamartomas

, 2016
Purpose Radiological characterization of pulmonary tumors may be difficult and invasive. Needle biopsy may produce false-negative results. F-18-FDG PET/CT is an established noninvasive procedure for lung tumor characterization and staging. This study was
Jacobsson, Hans,, Grundberg, Oscar,, Dobra, Katalin,, Axelsson, Rimma,, Uhlen, Natalja,, Sanchez-Crespo, Alejandro,, Sundin, Anders,, Kolbeck, Karl-Gustaf,   +7 more
core   +1 more source

Case of a hamartoma or hamartoma of a case? [PDF]

The Journal of Thoracic and Cardiovascular Surgery, 2018
Dipan J, Shah, Michael J, Reardon
openaire   +2 more sources