Results 41 to 50 of about 34,220 (292)

Features of clinical manifestations, diagnosis and therapy of tuberous sclerosis in children

Актуальные проблемы теоретической и клинической медицины
Tuberous sclerosis is a genetic disease from the group of phacomatoses characterized by lesions of the skin, nervous system and internal organs associated with impaired proliferation, migration anddifferentiation of neuroglia cells. In tuberous sclerosis,
M. M. Lepesova, A. A. Isabekova, D. A. Kuderbaeva, B. A. Orazaliev   +3 more
doaj   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

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

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

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

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

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Prophylactic Antiepileptic Treatment in Tuberous Sclerosis [PDF]

, 2020
Jóźwiak et al. suggest that their study, “…provides evidence that preventive antiepileptic treatment in infants with tuberous sclerosis complex improves long-term epilepsy control and cognitive outcome at school age.” The study is problematic, however ...
Mallick, AA, Patel, JS, Amin, S, Patel, Jayesh S, O'Callaghan, Finbar, O'Callaghan, F, Amin, Sam, Choudhury, P, Lux, Andrew L, Spaull, R, Mallick, Andrew A, Spaull, Robert, Choudhury, Prerna, Lux, AL   +13 more
core   +1 more source

Tips and Tricks for Hardware Removal and Allograft Fixation After a Failed Latarjet Procedure

Arthroscopy Techniques, EarlyView.
Abstract Although relatively rare, recurrent anterior shoulder instability requiring revision surgery after a failed Latarjet procedure can result in complications such as graft malposition, graft osteolysis, broken hardware and/or infection. Revision surgery after a failed Latarjet is a challenge due to a combination of technical factors such as ...
Mikalyn T. DeFoor, Ryan J. Froom, Nate J. Dickinson, Colin P. Murphy, Max Vidal, Tomas Aguirre, Christopher Bine, Matthew T. Provencher   +7 more
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