Delayed Diagnosis of Tuberous Sclerosis Complex: A Case Report of Abdominal Distension, Pain, and Severe Anemia. [PDF]
Rusheke H +3 more
europepmc +1 more source
Background and Purpose Human adenovirus (HAdV) causes respiratory or gastrointestinal tract infections depending on the virus subtype. While HAdV infections are generally self‐limiting in immunocompetent people, they can result in significant morbidity and mortality in immunocompromised adults and children.
Mohamed Zamzamy +16 more
wiley +1 more source
Long-Term Impact of Cenobamate on Cognition, Adaptive Behavior, and Quality of Life in Patients with Tuberous Sclerosis Complex. [PDF]
Operto FF +9 more
europepmc +1 more source
Retinal astrocytic hamartoma with/without tuberous sclerosis: A comparative analysis by multimodal imaging. [PDF]
Prabha D +3 more
europepmc +1 more source
From mechanism to phenotype: What fits in a basket trial
Epilepsia, Volume 67, Issue 4, Page 1573-1581, April 2026.
Kette D. Valente
wiley +1 more source
Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou +3 more
wiley +1 more source
Seizure and aspiration complicating acute expanding epidural hematoma in a tuberous sclerosis adolescent: a case report of clinical and surgical emergency. [PDF]
Prasad S +7 more
europepmc +1 more source
ABSTRACT Frailty in community‐dwelling individuals often leads to prolonged periods in bed or sitting, increasing their risk of pressure injury development. The Quality Improvement project ‘Pressure Reduction through cOntinuous Monitoring In the community SEtting’ (PROMISE) implemented the use of continuous pressure monitoring (CPM) to inform ...
Nicci Aylward‐Wotton +5 more
wiley +1 more source
Renal Cell Carcinoma in a Girl With Tuberous Sclerosis Due to a New Mutation. [PDF]
Alharbi I +3 more
europepmc +1 more source
ABSTRACT Background Epilepsy is a chronic neurological disorder that is prevalent among people with intellectual disabilities, profoundly affecting various aspects of life. Understanding the association between epilepsy and reduced quality of life in this population may benefit from exploring self‐determination, a key dimension of quality of life. Self‐
Alexandra I. Haenen +4 more
wiley +1 more source

