Results 41 to 50 of about 243,798 (221)

The effect of pregnancy on renal angiomyolipoma; a world of knowledge to gain, specifically in women with TSC

BMC Nephrology
Background Women are counseled preconceptionally about the potential risks of rAML progression and chance of complications during and due to pregnancy. However, a systematic search investigating the evidence on which this advice is based does not exist ...
Marlou W. Kluiving, Evelien F. H. I. Peeters, Titia A. Lely, Niek van Oorschot, Wendela L. de Ranitz-Greven   +4 more
doaj   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Segmental collagenoma in tuberous sclerosis – Think beyond the skin: A rare case report

Indian Journal of Dermatology, 2023
Collagenomas are connective tissue nevi characterized by an imbalance in the distribution and amount of collagen in the extracellular matrix. Shagreen patch, a collagenoma of tuberous sclerosis, is a classical finding in this genodermatosis (Tuberous ...
Ashok Kumar Nagarajan, Krishnaswamy Manoharan, Shreya Moozhiyil   +2 more
doaj   +1 more source

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA) [PDF]

, 2021
Manifestación rara; Tosca; Complejo de esclerosis tuberosaManifestació rara; Tosca; Complex d'esclerosi tuberosaRare manifestation; Tosca; Tuberous sclerosis complexBackground Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant ...
Perkovic Benedik, Mirjana, Curatolo, Paolo, Cottin, Vincent, Sauter, Matthias, Macaya Ruíz, Alfons, Carter, Tom, Belousova, Elena   +6 more
core   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Evaluating discrepancies between high‐yield neuroscience conditions in preclerkship medical education and national clinical incidence

Anatomical Sciences Education, EarlyView.
Abstract Medical education must balance foundational science with clinical relevance. Increasing emphasis on standardized assessments has led to prioritization of “high‐yield” conditions—those most likely to be assessed. Subsequently, educators and students often prioritize these conditions.
Kathryn Veazey, Oheneba Boadum
wiley   +1 more source

Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort

Molecular Genetics & Genomic Medicine
Tuberous sclerosis complex (TSC) is a variable multisystem disorder. The “no mutations identified” (NMI) group are reportedly phenotypically milder than those with an identified molecular cause, and often have mosaic or intronic variants not detected by ...
Clara W. T. Chung, Adam M. Bournazos, Lok Chi Denise Chan, Vanessa Sarkozy, John Lawson, Sean E. Kennedy, Sandra T. Cooper, Edwin P. Kirk, David Mowat   +8 more
doaj   +1 more source

Magnetic resonance imaging in prenatal diagnosis of tuberous sclerosis complex: a case report

Digital Diagnostics
Early detection of orphan diseases, including tuberous sclerosis complex, requires a multidisciplinary approach and the integration of new prenatal diagnostic methods, utilizing ultrasound and magnetic resonance imaging.
Tatiana V. Ivlyukova, Daria D. Bugrova, Alexander A. Melnikov, Larisa D. Belotserkovtseva, Natalia V. Klimova   +4 more
doaj   +1 more source

Tuberous Sclerosis

, 1988
A report of a joint meeting of the Forum on Mental Retardation of the Royal Society of Medicine and The Tuberous Sclerosis Association of Great Britain states that the prevalence of tuberous sclerosis (TS) for children under 15 years may be 1 in 10 ...
J Gordon Millichap
core   +1 more source

Anodal Transcranial Direct Current Stimulation Improves Social Behavior Alongside Neuroplastic Changes in a Tsc2+/− Rat Model of Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by altered synaptic connectivity and network organization, resulting in profound impairments in social communication and interaction. Transcranial direct current stimulation (tDCS) represents a promising approach to modulate maladaptive plasticity associated with ASD;
Antonia Ramme, Rebecca Winter, Natalia Jarzebska, Fatih Ögel, Marten Julian Richter, Iveta Vojtechova, Christine Winter, Tomas Petrasek, Robert Waltereit, Nadine Bernhardt   +9 more
wiley   +1 more source