scholarly journals Intracranial aneurysms in patients with tuberous sclerosis complex: a systematic review

2019 ◽  
Vol 24 (2) ◽  
pp. 174-183
Author(s):  
Mehdi Chihi ◽  
Oliver Gembruch ◽  
Marvin Darkwah Oppong ◽  
Bixia Chen ◽  
Thiemo Florin Dinger ◽  
...  
Keyword(s):  
Systematic Review ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Intracranial Aneurysms ◽  
Developmental Disorders ◽  
Internal Carotid ◽  
Large Population ◽  
Population Based ◽  
Healthy Population ◽  
Male Patients

OBJECTIVETuberous sclerosis complex (TSC) is a rare multisystem genetic disease. Arterial wall developmental disorders, such as aneurysms, in association with TSC have been well described for extracranial vasculature. The characteristics of intracranial aneurysms (IAs) in TSC have not previously been addressed in the literature. This systematic review was performed to identify and assess the distinct characteristics of IAs in patients with TSC.METHODSThe authors searched PubMed, Scopus, and Web of Science for publications describing cases of TSC and IA reported before August 7, 2018. They also report 2 cases of IAs in TSC patients treated at their own institution.RESULTSThirty-three TSC patients with a total of 42 IAs were included in this review. Three individuals presented with subarachnoid hemorrhage. The IAs were large or giant in 57.1% and fusiform in 45.2% of the cases. Most of the IAs (61.9%, 26 of 42) originated from the internal carotid artery. There was a higher prevalence of pediatric cases (66.7%) and male patients (63.6%, 21 of 32 individuals with known sex) among the collected series.CONCLUSIONSTSC patients with IAs are characterized with a higher proportion of large/giant and fusiform IAs and young age, suggesting rapid aneurysmal growth. Furthermore, there is a distinct location pattern of IAs and an inverse sex ratio than in the healthy population. Large population-based patient registers are required to improve the understanding of epidemiology and pathophysiology of IA formation in TSC.

scholarly journals Demographic, Clinical, and Radiographic Characteristics of Cerebral Aneurysms in Tuberous Sclerosis Complex

2020 ◽  
Author(s):  
Mehdi Chihi ◽  
Ulrich Sure ◽  
Ramazan Jabbarli
Keyword(s):  
Systematic Review ◽  
Magnetic Resonance ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Intracranial Aneurysms ◽  
Mr Angiography ◽  
Cerebral Aneurysms ◽  
Consensus Conference ◽  
Current Evidence ◽  
Recent Systematic Review

To date, little is known on the prevalence, incidence, and characteristics of intracranial aneurysms (IA) in patients with tuberous sclerosis complex (TSC). Based on our recent systematic review and two cases treated in our institute, we summarize the current evidence concerning the distinct characteristics of these aneurysms. In contrast to saccular IA in healthy adults, IA in TSC present commonly with large or even giant sac size and fusiform configuration, location predilection on the internal carotid artery remote from the branching zones, remarkable higher prevalence of pediatric cases, inverted sex-ratio, and suspected rapid growth. Although the pathogenesis of IA in TSC is still unclear, all these features might point to the crucial role a congenital defect in the development of IA rather than extrinsic or environmental factors. Furthermore, we discuss the enhancement of the regular magnetic resonance (MR) imaging screening suggested by the last recommendations of the 2012 International TSC Consensus Conference with cranial time-of-flight MR angiography in order to enable timely identification and treatment of frequently complex IA in TSC.

scholarly journals Cerebral organoid model reveals excessive proliferation of human caudal late interneuron progenitors in Tuberous Sclerosis Complex

2020 ◽  
Author(s):  
Oliver L. Eichmüller ◽  
Nina S. Corsini ◽  
Ábel Vértesy ◽  
Theresa Scholl ◽  
Victoria-Elisabeth Gruber ◽  
...  
Keyword(s):  
Animal Models ◽  
Human Brain ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Developmental Disorders ◽  
Neutral Loss ◽  
Egfr Signaling ◽  
Cortical Tubers ◽  
Opening Up ◽  
Excessive Proliferation

SummaryAlthough the intricate and prolonged development of the human brain critically distinguishes it from other mammals1, our current understanding of neurodevelopmental diseases is largely based on work using animal models. Recent studies revealed that neural progenitors in the human brain are profoundly different from those found in rodent animal models2–5. Moreover, post-mortem studies revealed extensive migration of interneurons into the late-gestational and post-natal human prefrontal cortex that does not occur in rodents6. Here, we use cerebral organoids to show that overproduction of mid-gestational human interneurons causes Tuberous Sclerosis Complex (TSC), a severe neuro-developmental disorder associated with mutations in TSC1 and TSC2. We identify a previously uncharacterized population of caudal late interneuron progenitors, the CLIP-cells. In organoids derived from patients carrying heterozygous TSC2 mutations, dysregulation of mTOR signaling leads to CLIP-cell over-proliferation and formation of cortical tubers and subependymal tumors. Surprisingly, second-hit events resulting from copy-neutral loss-of-heterozygosity (cnLOH) are not causative for but occur during the progression of tumor lesions. Instead, EGFR signaling is required for tumor proliferation, opening up a promising approach to treat TSC lesions. Our study demonstrates that the analysis of developmental disorders in organoid models can lead to fundamental insights into human brain development and neuropsychiatric disorders.

scholarly journals Association Between Smoking Hookahs (Shishas) and Higher Risk of Obesity: A Systematic Review of Population-Based Studies

2019 ◽  
Vol 6 (2) ◽  
pp. 23 ◽  
Author(s):  
Reem Baalbaki ◽  
Leila Itani ◽  
Lara El Kebbi ◽  
Rawan Dehni ◽  
Nermine Abbas ◽  
...  
Keyword(s):  
Systematic Review ◽  
Meta Analysis ◽  
Large Population ◽  
Heart Association ◽  
Population Based ◽  
Hookah Smoking ◽  
Prevalence Of Obesity ◽  
Potential Link ◽  
Scientific Statement ◽  
Meta Analyses

The American Heart Association has published a scientific statement on the effect of hookah smoking on health outcomes; nevertheless, hookah smoking continues to be popular worldwide, especially among the young. Recent reports mention a potential link between hookah smoking and obesity; however, uncertainties still surround this issue. The aim of the current study was to conduct a systematic review to clarify whether hookah smoking is associated with a higher risk of obesity among the general population. This study was conducted in compliance with the preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines, and data were collated by means of a meta-analysis and a narrative synthesis. Of the 818 articles retrieved, five large-population and low-bias studies comprising a total of 16,779 participants met the inclusion criteria and were reviewed. All included studies reported that, regardless of gender, hookah smoking increases the risk of obesity among all ages and observed an association between the two after a correction for several confounders or reported a higher prevalence of obesity among hookah smokers. This was confirmed by the meta-analysis. Therefore, hookah smoking seems to be associated with a higher risk of obesity. Public health policymakers should be aware of this for the better management of obesity and weight-related comorbidities.

scholarly journals Comparison of prognostic models to predict the occurrence of colorectal cancer in asymptomatic individuals: a systematic literature review and external validation in the EPIC and UK Biobank prospective cohort studies

Gut ◽  
2018 ◽  
Vol 68 (4) ◽  
pp. 672-683 ◽  
Author(s):  
Todd Smith ◽  
David C Muller ◽  
Karel G M Moons ◽  
Amanda J Cross ◽  
Mattias Johansson ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Systematic Review ◽  
Prediction Models ◽  
Large Population ◽  
External Validation ◽  
Population Based ◽  
Prognostic Models ◽  
Uk Biobank ◽  
Asymptomatic Individuals ◽  
The Uk

ObjectiveTo systematically identify and validate published colorectal cancer risk prediction models that do not require invasive testing in two large population-based prospective cohorts.DesignModels were identified through an update of a published systematic review and validated in the European Prospective Investigation into Cancer and Nutrition (EPIC) and the UK Biobank. The performance of the models to predict the occurrence of colorectal cancer within 5 or 10 years after study enrolment was assessed by discrimination (C-statistic) and calibration (plots of observed vs predicted probability).ResultsThe systematic review and its update identified 16 models from 8 publications (8 colorectal, 5 colon and 3 rectal). The number of participants included in each model validation ranged from 41 587 to 396 515, and the number of cases ranged from 115 to 1781. Eligible and ineligible participants across the models were largely comparable. Calibration of the models, where assessable, was very good and further improved by recalibration. The C-statistics of the models were largely similar between validation cohorts with the highest values achieved being 0.70 (95% CI 0.68 to 0.72) in the UK Biobank and 0.71 (95% CI 0.67 to 0.74) in EPIC.ConclusionSeveral of these non-invasive models exhibited good calibration and discrimination within both external validation populations and are therefore potentially suitable candidates for the facilitation of risk stratification in population-based colorectal screening programmes. Future work should both evaluate this potential, through modelling and impact studies, and ascertain if further enhancement in their performance can be obtained.

scholarly journals A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Johann Philipp Zöllner ◽  
David Neal Franz ◽  
Christoph Hertzberg ◽  
Rima Nabbout ◽  
Felix Rosenow ◽  
...  
Keyword(s):  
Systematic Review ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Burden Of Illness

Predictors of seizure freedom after surgical management of tuberous sclerosis complex: A systematic review and meta-analysis

2013 ◽  
Vol 105 (3) ◽  
pp. 377-383 ◽  
Author(s):  
Kai Zhang ◽  
Wen-han Hu ◽  
Chao Zhang ◽  
Fan-gang Meng ◽  
Ning Chen ◽  
...  
Keyword(s):  
Systematic Review ◽  
Tuberous Sclerosis ◽  
Surgical Management ◽  
Tuberous Sclerosis Complex ◽  
Meta Analysis ◽  
Seizure Freedom

Tuberous Sclerosis Complex With Multiple Intracranial Aneurysms in an Infant

2008 ◽  
Vol 39 (5) ◽  
pp. 365-367 ◽  
Author(s):  
Po-Cheng Hung ◽  
Huei-Shyong Wang ◽  
Ming-Liang Chou ◽  
Alex M.-C. Wong
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Intracranial Aneurysms ◽  
Multiple Intracranial Aneurysms

scholarly journals A population-based study to estimate survival and standardized mortality of tuberous sclerosis complex (TSC) in Taiwan

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Jui-Hui Peng ◽  
Hung-Pin Tu ◽  
Chien-Hui Hong
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Survival Rates ◽  
Population Based ◽  
Standardized Mortality Ratio ◽  
Significant Prognostic Factor ◽  
Research Database ◽  
Mortality And Morbidity ◽  
Asian Patients ◽  
Diagnosis Age

Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant disease with systemic manifestations, which can cause significant mortality and morbidity. Population-based epidemiological studies on TSC mortality and survival remain scarce, though several recent studies provide evidence that TSC survival rates are high and disease prognosis is fair for most patients. This study aims to estimate the life expectancy and mortality statistics in Taiwanese TSC patients, investigate prognosis and associations of TSC mortality based on demographic variables, and compare these results to past literature, especially for Asian patients. Methods Taiwanese National Health Insurance (NHI) insurees can obtain Catastrophic Illness Certificates (CIC) for certain eligible diseases to waive copayments after diagnosis by two independent physicians. CIC holders for TSC during 1997–2010 were identified from the NHI Research Database. Queries on enrollment (CIC acquisition) age, endpoint (end of query period or death) age, sex, and comorbidities were obtained. Patients were separated into cohorts (endpoint age, sex, and age of diagnosis), and analyzed accordingly. Results 471 patients (232 male, 239 female) were identified, of which 14 died. Compared to literature, patients showed similar demographics (age range, diagnosis age, sex distribution); similar manifestations and prevalence (epilepsy, intellectual disability, renal disease); lower disease prevalence (1 in 63,290); lower mortality (0.21% per year); and near-identical standardized mortality ratio (4.99). A cumulative mortality of 4.08% was found over 14 years, though mortality plateaued at 7 years post-enrollment, suggesting a good overall survival rate; comparable with previous studies in Asian patients. Enrollment age was a significant prognostic factor, with late-enrollment (age > 18) patients at higher risk for all-cause mortality (Hazard ratio = 6.54). Average remaining lifetime was significantly lower than the general population, and decreased with age. Conclusions This study reports a population-based disease database, highlights the importance of diagnosis age in prognosis prediction, and suggests the role of renal manifestations in mortality. Furthermore, it corroborates recent TSC studies in the Asian population in terms of survival. Overall, physician vigilance, early diagnosis, and careful monitoring are beneficial for disease outcome and patient survival.

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