ArticleAnnals of internal medicine2011
Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences.
Article in Annals of internal medicine, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Rapamycin and rapalogs for tuberous sclerosis complex.The Cochrane database of systematic reviews · 2023Pooled it
- Rapamycin and rapalogs for tuberous sclerosis complex.The Cochrane database of systematic reviews · 2016Pooled it
- mTOR dysregulation induces IL-6 and paracrine AT2 cell senescence impeding lung repair in lymphangioleiomyomatosis.Nature communications · 2025Article
- Delayed TSC Diagnosis Presenting as End-Stage Renal Disease With Renal and Hepatic Angiomyolipoma: Case Report and Review.Clinical case reports · 2025Article
- Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit.Orphanet journal of rare diseases · 2024Article
- Review
- Tuberous sclerosis: a survey in the canton of Vaud, Switzerland.Frontiers in medicine · 2024Article
- Automated Segmentation and Measurements of Pulmonary Cysts in Lymphangioleiomyomatosis across Multiple CT Scanner Platforms over a Period of Two Decades.Bioengineering (Basel, Switzerland) · 2023Article
- Article
- Late diagnosis of tuberous sclerosis: a case report.Oxford medical case reports · 2023Article
- Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings.JID innovations : skin science from molecules to population health · 2023Article
- Tuberous sclerosis complex with left ventricular noncompaction: a case description.Quantitative imaging in medicine and surgery · 2022Article
- A population-based study to estimate survival and standardized mortality of tuberous sclerosis complex (TSC) in Taiwan.Orphanet journal of rare diseases · 2021Article
- Ultra-Small Lung Cysts Impair Diffusion Without Obstructing Air Flow in Lymphangioleiomyomatosis.Chest · 2021Article
- Article
- A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults.The British journal of dermatology · 2020Article
- Rapalog resistance is associated with mesenchymal-type changes in Tsc2-null cells.Scientific reports · 2019Article
- Consequences of delay in screening, monitoring, and treatment of angiomyolipoma and tuberous sclerosis: A case report .Clinical nephrology · 2018Article
- Fibrous cephalic plaques in tuberous sclerosis complex.Journal of the American Academy of Dermatology · 2018Article
- Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.Dermatologic clinics · 2017Review
Corrections and comments
- Commented on by
- Commented on by
Authors and funding
7 authors.
Funding
Abstract
backgroundTuberous sclerosis complex (TSC) is associated with tumor development in the brain, retina, kidney, skin, heart, and lung. Seizures, intellectual disability, and characteristic skin lesions commonly manifest in early childhood, but some findings, notably renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM), emerge later, placing adults with undiagnosed TSC at increased risk for morbidity and mortality.
objectiveTo describe the clinical presentation and severity of TSC in adult women.
designRetrospective cohort study.
settingNational Institutes of Health Clinical Center, Bethesda, Maryland, 1995 to 2010. PATIENTS: 79 women aged 18 years or older who were enrolled in an observational cohort study of TSC to evaluate disease manifestations. MEASUREMENTS: History, physical examination, pulmonary function testing, chest radiography, abdominal computed tomography, high-resolution chest computed tomography, and brain magnetic resonance imaging were used to evaluate patients.
resultsAmong the 45 patients who received a diagnosis of TSC in adulthood, 21 presented with symptoms due to LAM, 19 with renal angiomyolipomas, and 10 with seizures. Of the 45 patients, 30 met clinical criteria for TSC in childhood that remained undiagnosed for a median of 21.5 years and 15 were older than 18 years before meeting the clinical criteria for TSC. Patients diagnosed in adulthood and those diagnosed in childhood had similar occurrences of pneumothorax, shortness of breath, hemoptysis, nephrectomy, and death. LIMITATION: No men were included in the study, and selection was biased toward patients having pulmonary LAM.
conclusionWomen who received a TSC diagnosis in adulthood had minimal morbidity during childhood but were still at risk for life-threatening pulmonary and renal manifestations. PRIMARY FUNDING SOURCE: Intramural Research Program, National Institutes of Health, National Heart, Lung, and Blood Institute.
Indexed as
Identifiers
What OpenQuestion holds
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.