Results 141 to 150 of about 243,798 (221)

Tuberous Sclerosis: A Patient who presented with Fits

Journal of Rawalpindi Medical College, 2019
Tuberous sclerosis is an autosomal dominant genetic disease that causes benign lesions in various organs such as the kidneys, heart, liver, eyes, lungs, and skin.1 The pathogenesis of this disease involves mutation of either gene TSC1 or gene TSC2, that ...
Noor Fatima, Madeeha Nazar, Muhammad Hamza, Sehrish Iqbal, Nida Anjum, Muhammad Khurram, Faramarz Khan   +6 more
doaj  

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

Delayed Diagnosis of Tuberous Sclerosis Complex: A Case Report. [PDF]

Cureus
Kundak S, Yalabik H.
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

Pancreatic neuroendocrine tumors in patients with tuberous sclerosis: a multicenter study and systematic review. [PDF]

J Endocr Soc
Shekhda KM, Howat J, Gao Y, Bel-Ange A, Grozinsky-Glasberg S, Kaltsas G, Ho KMA, Hayes AR, Mandair D, Toumpanakis C, Karra E, Dixon RA, Donnelly D, Jones EA, Jones CH, O'Callaghan F, Sharma A, Slaney K, Frydman A, Srirajaskanthan R, Kibrya N, Caplin M, Elmslie F, Grossman A.   +23 more
europepmc   +1 more source

Factors Associated With Challenging Behaviour in People With Severe‐Profound Intellectual Disabilities: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Individuals with severe to profound intellectual disability (ID) exhibit high support needs and significant communication impairments and may present with challenging behaviours such as aggression, self‐injury and stereotypies. These behaviours can cause distress, hinder healthcare access and delivery and impair quality of life for ...
I. D. C. van Balkom, J. Cooke, A. G. de Cuba, E. Burkitt‐Wright, C. Gaasterland, M. Burdeus‐Olavarrieta   +5 more
wiley   +1 more source

Prenatal magnetic resonance imaging findings of tuberous sclerosis complex in fetuses. [PDF]

Front Oncol
Xie L, Guo Y, Bai W.
europepmc   +1 more source

Tuberous Sclerosis Complex Presenting as Periungual Fibromas: A Rare Case Report and Literature Review [PDF]

Ying Li,1,* Zhipeng Wang,1,* Yanhua Yang,2 Xiaoyan Xu3 1Department of Pathology, Sanya Central Hospital (The Third People’s Hospital of Hainan Province), Sanya, 572000, People’s Republic of China; 2Department of Pathology, Qingdao Municipal ...
Li Y, Yang Y, Xu X, Wang Z
core  

Radiomics Analysis for Predicting Medication‐Related Osteonecrosis of the Jaw Using Computed Tomography

Oral Diseases, EarlyView.
ABSTRACT Objectives To determine whether pretreatment radiomics can predict medication‐related osteonecrosis of the jaw (MRONJ). Methods Patients with mandibular MRONJ at Hiroshima University Hospital (2009–2024) who underwent MDCT before initiating bone resorption inhibitors were retrospectively identified. Records from 2009 to 2020 were also reviewed
Masaru Konishi
wiley   +1 more source

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