Results 161 to 170 of about 50,774 (290)

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic. [PDF]

open access: yesClin Genet
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Weisblum Neuman H   +6 more
europepmc   +2 more sources

Artificial intelligence‐based statistical modeling delineates architectural distortion in focal cortical dysplasia

open access: yesBrain Pathology, EarlyView.
Histopathological identification of subtle cortical architectural abnormalities in focal cortical dysplasia (FCD) resections remains challenging. We investigated if artificial intelligence (AI)‐based morphometric and spatial analysis of NeuN‐stained cortical sections could detect neuronal architectural disorganization in epilepsy resections, including ...
Andrew Cannon   +9 more
wiley   +1 more source

Non‐canonical PKG1 regulation in cardiovascular health and disease

open access: yesBritish Journal of Pharmacology, EarlyView.
It is well established that the cyclic GMP‐dependent protein kinase I (PKG1) is canonically activated by cyclic guanosine monophosphate (cGMP), enabling its regulation of vascular tone, cardiac function and smooth muscle homeostasis. However, diverse non‐canonical stimuli of PKG1 have also been identified.
Jie Su, Joseph Robert Burgoyne
wiley   +1 more source

Is there a role for cannabidiol in obesity, metabolic syndrome and binge eating?

open access: yesBritish Journal of Pharmacology, EarlyView.
Cannabidiol (CBD) is one of the most abundant phytocannabinoids isolated from the Cannabis sativa plant. CBD is a lipophilic, non‐intoxicating substance that differently from Δ9‐tetrahydrocannabinol (Δ9‐THC) does not present the typical profile of a drug of abuse.
Luca Botticelli   +7 more
wiley   +1 more source

Screening for brain‐related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda   +46 more
wiley   +1 more source

Unusual presentation of osteomyelitis of the tuber calcanei in a 16‐month‐old gelding

open access: yesEquine Veterinary Education, EarlyView.
Summary A 16‐month‐old Morgan gelding was referred for evaluation of a right hindlimb lameness (grade 4/5, AAEP) accompanied by swelling of the right calcaneal region. Clinical signs had been present for approximately 4 weeks prior to referral.
A. M. Arreola   +3 more
wiley   +1 more source

LAT1/SLC7A5‐mediated amino acid uptake is regulated by redox signals triggered by formyl‐peptide receptor 2

open access: yesThe FEBS Journal, EarlyView.
FPR2 activation mediates NOX‐dependent LAT1 expression and, in turn, promotes mTORC1 signaling. Upon stimulation with WKYMVm, the FPR2‐NOX2‐ROS axis upregulates LAT1 via increased c‐Myc phosphorylation and decreased miR‐126. Additionally, it promotes CD98 translocation to the plasma membrane.
Myrhiam Cassese   +5 more
wiley   +1 more source

Double‐chambered left ventricle in a pediatric patient with tuberous sclerosis complex: A case report

open access: yes
Pediatric Investigation, EarlyView.
Haoxuan Li   +6 more
wiley   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

open access: yesJournal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld   +6 more
wiley   +1 more source

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