Results 121 to 130 of about 28,298 (249)

Descrição atualizada da paralisia cerebral

Developmental Medicine &Child Neurology, EarlyView.
Resumo A paralisia cerebral (PC) é um termo descritivo amplamente utilizado para um espectro de deficiências motoras causadas por lesão ou malformação cerebral não progressiva ocorrida durante as fases iniciais do desenvolvimento. Avanços recentes nas áreas da genética, de pesquisa em inflamação e em neurofisiologia têm refinado a compreensão ...
Bernard Dan, Peter Rosenbaum, Lucinda Carr, Martin Gough, John Coughlan, Nonyelum Nweke   +5 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

Tuberous Sclerosis

Pediatric and Developmental Pathology, 1999
openaire   +5 more sources

Late-Onset Diagnosis of Tuberous Sclerosis Complex Revealed by Renal Angiomyolipoma: A Case Report. [PDF]

Clin Case Rep
Fekih A, Heni W, Messaoudi C, Selmi Y, Touati D, Elloumi Z, Labidi J.   +6 more
europepmc   +1 more source

Clinicopathological and molecular comparison of eosinophilic solid and cystic renal cell carcinoma and TFEB‐amplified renal cell carcinoma: a comprehensive study of 15 cases

Histopathology, EarlyView.
This study supports the need for ancillary testing to diagnose ESC‐RCC versus TFEB‐amplified RCC, as neither morphology nor immunohistochemistry is sufficiently specific to distinguish these entities. The underlying molecular drivers in each tumour are pathogenic TSC1 or TSC2 gene variants in ESC‐RCC and TFEB gene amplification in TFEB‐amplified RCC ...
Hayley Zullow, Melissa Y. Tjota, Jung Woo Kwon, Tatjana Antic   +3 more
wiley   +1 more source

Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex. [PDF]

BMC Pediatr
Othman AA, Sadek AA, Aladawy MA, Aziz SP, Sedky A, Mansour TMM, Younis MMS, Abdelatif RG, Hassan AEM, Aboelmagd MA, Mohamed M, Mohamed KR, Elkousy SM, Montaser Elkady NM, Khang R, Ryu SW, Abdelkreem E.   +16 more
europepmc   +1 more source

Exploring Parents' Values in Healthcare Decision‐Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders associated with intellectual disabilities can be complex and value‐laden, in which parents often play a central role. To ensure that clinical practice guideline recommendations align with the perspectives of parents, it is essential to ...
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

The phosphoproteomic landscape of the neurological manifestations in tuberous sclerosis complex. [PDF]

Acta Neuropathol
Girodengo M, Mihaylov SR, Klonowska K, Mantoan Ritter L, Flynn HR, Skehel JM, Bou Farhat E, Aronica E, White M, Kwiatkowski DJ, Ultanir SK, Bateman JM.   +11 more
europepmc   +1 more source

The Impact of Fragile X Syndrome on Caregivers: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background The effects of fragile X syndrome (FXS) reach beyond the individual with the condition, profoundly influencing the well‐being of caregivers and family members. The aim of this review is to synthesise current evidence on the effects of FXS on caregivers, investigate contributors to their burden and identify gaps for future research ...
Katerina Poprelka, Konstantina Stavrogianni, Panagiota‐Eleni Tsalouchidou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Anastasios Bonakis, Stylianos Gatzonis   +7 more
wiley   +1 more source

Case Report: Individualized management of tuberous sclerosis complex-associated lymphangioleiomyomatosis. [PDF]

Front Med (Lausanne)
Wang G, Yang L, Qian S, Hu S.
europepmc   +1 more source