ReviewPediatric radiology2008
The pathogenesis and imaging of the tuberous sclerosis complex.
Review in Pediatric radiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 116 citations in OpenAlex.
- Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis.Neuropsychology review · 2018Pooled it
- Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis.Orphanet journal of rare diseases · 2015Pooled it
- Everolimus for subependymal giant cell astrocytoma: 5-year final analysis.Annals of neurology · 2015Trial
- Trial
- MRI features of joint capsule-originating hamartomas in a pediatric patient with tuberous sclerosis: a novel case report.Skeletal radiology · 2026Article
- Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex.Journal of autism and developmental disorders · 2024Article
- Incidence and Characteristics of Cerebellar Atrophy/Volume Loss in Children with Confirmed Diagnosis of Tuberous Sclerosis Complex.Children (Basel, Switzerland) · 2024Article
- Early Diagnosis of Tuberous Sclerosis Complex: Prenatal Diagnosis.AJNR. American journal of neuroradiology · 2023Article
- Extension of microglial activation is associated with epilepsy and cognitive dysfunction in Tuberous sclerosis complex: A TSPO-PET study.NeuroImage. Clinical · 2023Article
- Cancer and Radiosensitivity Syndromes: Is Impaired Nuclear ATM Kinase Activity the Primum Movens?Cancers · 2022Review
- [Tuberous sclerosis complex].Radiologie (Heidelberg, Germany) · 2022Review
- Clinical profile of tuberous sclerosis complex patients with and without epilepsy: a need for awareness for early diagnosis.Arquivos de neuro-psiquiatria · 2022Article
- Sequential everolimus for angiomyolipoma associated with tuberous sclerosis complex: a prospective cohort study.Orphanet journal of rare diseases · 2021Article
- All tubers are not created equal: Cerebellar tubers in a pediatric patient with tuberous sclerosis.Radiology case reports · 2021Article
- Epilepsy, impaired functioning, and quality of life in patients with tuberous sclerosis complex.Epilepsia open · 2019Article
- Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry.Frontiers in neurology · 2019Article
- [CNS manifestations of neurocutaneous syndromes].Der Radiologe · 2018Review
- Radiobiological Characterization of Tuberous Sclerosis: a Delay in the Nucleo-Shuttling of ATM May Be Responsible for Radiosensitivity.Molecular neurobiology · 2018Article
- Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway.Neuroradiology · 2018Review
- Tuberous sclerosis: Inside and outside.Medical journal, Armed Forces India · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by the formation of hamartomatous lesions in multiple organ systems. It is the second most common neurocutaneous syndrome after neurofibromatosis type 1 and has been recognized since the late 1800s. Although the disease has complete penetrance, there is also high phenotypic variability: some patients have obvious signs at birth, while others remain undiagnosed for many years. In addition to skin lesions, TSC patients develop numerous brain lesions, angiomyolipoma (AMLs), lymphangiomyomatosis (LAM) in the lungs, cardiac rhabdomyomas, skeletal lesions, and vascular anomalies, all of which are well seen with medical imaging. Our knowledge of TSC genetics and pathophysiology has expanded dramatically in recent years: two genetic loci were discovered in the 1990s and recent elucidation of TSC's interaction with the mTOR pathway has changed how we manage the disease. Meanwhile, medical imaging is playing an increasingly important role in the diagnosis, management, and treatment of TSC. We provide an update on the genetics and pathophysiology of TSC, review its clinical manifestations, and explore the breadth of imaging features in each organ system, from prenatal detection of cardiac rhabdomyomas to monitoring rapamycin therapy to treatment of AMLs by interventional radiology.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.