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The article explores how pathogenic TSC2 gene variants impact the developmental trajectories of human cortical organoids derived from individuals with Tuberous Sclerosis Complex (TSC). Through longitudinal molecular and cellular analyses, researchers found that TSC2 variants disrupt neurogenesis, synaptogenesis, and gliogenesis, resembling molecular signatures of neuropsychiatric disorders. The study suggests that TSC2 variants lead to mitochondrial dysfunction, impaired synaptic formation, and aberrant neurofilament formation, affecting early cortical development. This research sheds light on the impact of TSC2 mutations on neurodevelopmental processes and gene regulatory networks. [Extracted from the article]

A recent study conducted at Universitatsklinikum Erlangen focused on understanding radiosensitivity in individuals with tuberous sclerosis complex (TSC). The research found that patients with TSC exhibited increased radiosensitivity compared to healthy individuals of similar age, similar to patients with malignant tumors. The study collected blood samples from 13 adult TSC patients and analyzed their sensitivity to ionizing radiation, highlighting potential implications for treatment and care. For more information, the full article can be accessed through Discover Oncology, published by Springer. [Extracted from the article]

Researchers at Dalian Medical University have made new findings in tuberous sclerosis, a genetic condition that causes the development of renal cysts and/or angiomyolipomas (AMLs) in patients. The study focused on the molecular events between activated mTOR and renal cysts/AMLs, which are still largely unknown. The researchers found that mTOR activation caused by TSC2 deletion increases PRAS40 expression through miR-142-3p repression, and that inhibiting PRAS40 or inducing miR-142-3p expression impaired renal cystogenesis. The study suggests that targeting the mTOR/miR-142-3p/PRAS40 signaling cascade may help mitigate hyperactivated mTOR-related diseases. [Extracted from the article]

A recent study conducted by researchers at Gazi University focused on tuberous sclerosis complex (TSC), a genetic disorder characterized by the development of benign tumors in various organs. The study presented a case of an infant with TSC who also had multiple cysts in the kidneys. The researchers elucidated the mechanism of renal cyst formation in TSC and identified a rare coexistence of TSC and autosomal dominant polycystic kidney disease (ADPKD). The study emphasizes the importance of regular follow-up visits with healthcare providers from various specialties for the comprehensive management of TSC and ADPKD. [Extracted from the article]

A recent report from Army Medical University in Chongqing, People's Republic of China, discusses the case of a patient with tuberous sclerosis complex (TSC), a genetic disorder characterized by hamartomas in various organs. The patient presented with epilepsy and underwent genetic testing to confirm the diagnosis. The study highlights the importance of considering TSC in patients with broad clinical manifestations and provides insights into the impact of genotype on the prognosis and treatment strategies for TSC-related refractory epilepsy. The research was supported by the Natural Science Foundation of Chongqing. [Extracted from the article]

A recent study conducted by researchers at the University of Texas McGovern Medical School has found that children with tuberous sclerosis complex (TSC) are at a high risk for drug-resistant epilepsy (DRE). The study aimed to determine if the TSC genotype was associated with DRE and found that participants with a TSC2 pathogenic variant were significantly more likely to have DRE compared to those with a TSC1 variant or no pathogenic mutation. Additionally, TSC2 variants predicted to result in no protein product were associated with a higher risk for DRE. These findings can inform counseling, surveillance, and management for patients with TSC. [Extracted from the article]

A recent report from the University of Bari in Italy discusses the findings of a study on tuberous sclerosis complex (TSC), a rare genetic disorder. TSC is caused by mutations in the TSC1 and TSC2 genes, leading to the overactivation of the mTOR pathway and the development of benign tumors in various organs. The study highlights the need for a better understanding of the disease and the development of novel therapeutic approaches. It provides an overview of current therapies for TSC and explores the repurposing of approved drugs and the identification of new drug targets. [Extracted from the article]

A study conducted at Massachusetts General Hospital compared the clinical and radiological presentations of tuberous sclerosis complex (TSC)-associated lymphangioleiomyomatosis (LAM) and sporadic LAM. The researchers conducted a retrospective medical record review of 90 patients with confirmed LAM diagnoses. The study found that sporadic LAM patients reported a greater number of clinical symptoms at the time of diagnosis compared to TSC-LAM patients. Additionally, all four CT phenotypes were present among the TSC-LAM patient population, while hepatic fat-containing lesions were the only phenotype present in sporadic LAM patients. The study suggests that the diagnostic criteria for sporadic LAM and/or TSC could be adapted based on these differences. [Extracted from the article]

A recent study conducted at Cincinnati Children's Hospital focused on the impact of seizure onset zone (SOZ) and intracranial electroencephalography (iEEG) ictal characteristics on epilepsy surgery outcomes in patients with tuberous sclerosis complex (TSC). The study found that the size and number of SOZ were significant factors in predicting surgical outcomes. Patients with a larger SOZ and multiple SOZs were more likely to have poor outcomes. The researchers suggest that these findings could serve as biomarkers for prognosis in epilepsy surgery outcomes for pediatric TSC patients. [Extracted from the article]

A recent report from Wake Forest University School of Medicine explores the potential roles of voltage-gated ion channel disruption in Tuberous Sclerosis Complex (TSC). TSC is a disorder that results in overactive mammalian target of rapamycin (mTOR) signaling, which has been linked to various disease states. The study focuses on the relationship between voltage-gated ion channels and epilepsy in TSC, as well as the regulation of these channels by mTOR signaling. The research provides a comprehensive review of seizure types in TSC patients and suggests possible parallels with acquired epilepsies associated with voltage-gated ion channel dysfunction. [Extracted from the article]

A recent study conducted by researchers at Vilnius University provides new insights into tuberous sclerosis complex (TSC), a rare genetic disorder characterized by the presence of benign tumors in multiple organs. The study highlights the association between the presence of cortical or subcortical tubers and epileptic seizures in TSC patients. It also emphasizes the importance of early recognition and control of seizures through preventive antiepileptic treatment, such as vigabatrin or everolimus, to improve developmental and neurological outcomes. The research article offers a literature review on epilepsy and preventive antiepileptic treatment in TSC. [Extracted from the article]

A recent study conducted by researchers at Oslo Metropolitan University investigated the pharmacokinetic variability of everolimus, a precision drug used to treat epilepsy in individuals with tuberous sclerosis complex (TSC). The study analyzed anonymized data from medical records of TSC patients in Norway and Denmark from 2012 to 2020. The results showed extensive variability in everolimus concentrations both within and between patients, with enzyme-inducing antiseizure medications (ASMs) playing a significant role. The findings suggest the importance of therapeutic drug monitoring in TSC patients receiving everolimus treatment. [Extracted from the article]

Researchers at Peking Union Medical College Hospital in Beijing, China have conducted a study on tuberous sclerosis and its treatment. The study aimed to determine the effectiveness of a specific treatment for renal angiomyolipomas (RAMLs) in patients with tuberous sclerosis complex (TSC). The researchers found that the expression of premelanosome protein (PMEL) correlated with the size of TSC-RAML tumors and inversely correlated with the reduction rate of these tumors after treatment with an mTORC1 inhibitor. This suggests that PMEL may serve as a predictive biomarker for the efficacy of mTORC1 inhibitor treatment. [Extracted from the article]

A study conducted by researchers from Shenzhen Children's Hospital in China has revealed new insights into tuberous sclerosis complex (TSC). Tuberous sclerosis is a multi-system disorder caused by mutations in either TSC1 or TSC2. The researchers used targeted long-read sequencing to investigate patients with "no mutation identified" (NMI) and found likely pathogenic/pathogenic variants in 13 out of 26 cases. These findings suggest a higher prevalence of mosaicism among tuberous sclerosis patients than previously recognized and highlight the value of long-read sequencing in cases with NMI. [Extracted from the article]

A recent study conducted at Columbia University Irving Medical Center has examined the cellular pathology of cytomegalic neurons in tuberous sclerosis complex (TSC). The researchers used a murine Tsc1 conditional knockout model to compare the cellular pathology of these neurons to those in human cortical tubers. They found that the cytomegalic neurons in both mice and humans exhibited unique features, such as cytoplasmic vacuoles associated with Golgi complexes and the ectopic formation of perineuronal nets (PNNs). These findings provide new insights into the pathological features of Golgi complexes and PNNs in TSC. [Extracted from the article]

Researchers at Texas Children's Hospital have presented data on infantile spasms in infants with tuberous sclerosis complex (TSC). The case study involved a newborn with a prenatally discovered cardiac rhabdomyoma, which led to an early genetic diagnosis of TSC. The researchers found that early diagnosis and presymptomatic electroencephalography (EEG) revealed subclinical seizures meeting the definition for status epilepticus on the first day of life. The study suggests that early consideration for neonatal EEG monitoring can help identify and treat neonatal seizures, reduce the risk of infantile spasms, and potentially improve neurodevelopmental outcomes. [Extracted from the article]

A recent study conducted by Harvard Medical School found that earlier surgery and shorter duration of epilepsy prior to surgery were associated with improved postoperative language development in children with tuberous sclerosis complex (TSC). The study evaluated the impact of the timing of epilepsy surgery on neurocognitive outcomes in a cohort of children with TSC. The researchers used neuropsychological tests to measure changes in language skills before and after surgery and found that age at surgery and duration of epilepsy prior to surgery were significant factors in predicting postoperative language improvement. The study suggests that further research is needed to better understand the impact of surgical timing on neurocognitive outcomes in TSC patients. [Extracted from the article]

A recent report from the Medical University of Warsaw discusses the case of a kidney transplant recipient with tuberous sclerosis complex (TSC) who developed a rare tumor called perivascular epithelioid cell tumor (PEComa) in the liver. TSC is a rare genetic disease that causes non-cancerous tumors to develop in various organs. The patient underwent a CT scan as part of their oncological follow-up after the kidney transplant, which revealed two tumors in the liver. The larger tumor was treated with radiofrequency ablation (RFA), and no recurrence of the PEComa was found during the 3.5-year follow-up. This case is the second to demonstrate RFA as a treatment method for liver PEComa and the first in a kidney transplant recipient. [Extracted from the article]

According to a preprint abstract from biorxiv.org, researchers have found that the protein DYRK1A interacts with the Tuberous Sclerosis Complex (TSC) proteins, TSC1 and TSC2, which negatively regulate mTORC1 activation. DYRK1A inhibits TSC complex activity through phosphorylation on TSC2, promoting mTORC1 activity. The knockdown of DYRK1A results in reduced cell size, which depends on mTORC1. The study also suggests a conserved role of DYRK1A in TORC1 regulation. However, it is important to note that this preprint has not been peer-reviewed. [Extracted from the article]

A recent study conducted at King Saud Bin Abdulaziz University for Health Sciences in Riyadh, Saudi Arabia aimed to determine the prevalence and characteristics of tuberous sclerosis complex (TSC) in the pediatric Saudi population. The study analyzed 61 genetically confirmed TSC patients and found that the mean age of diagnosis was 4.9 years. The most common symptoms included subependymal nodules, cortical tubers and/or radial migration lines, and hypomelanotic macules. The majority of patients also had epilepsy, with half of them considered medically intractable. The study concluded that regular monitoring of TSC patients is crucial for early identification of any issues. [Extracted from the article]

A case study conducted at Johns Hopkins University Hospital in Baltimore, Maryland, reports on a female neonate with tuberous sclerosis complex who developed supraventricular tachycardia. The patient required triple-drug therapy to manage the condition, and remained stable without recurrences. This is a rare case of supraventricular tachycardia in a functionally normal heart with structural abnormalities, possibly due to multiple concealed accessory pathways. The research has been peer-reviewed and provides valuable insights into the management of this condition. [Extracted from the article]

A recent study conducted by researchers at the University of Nebraska Medical Center focused on tuberous sclerosis complex (TSC), a rare genetic disease that can lead to the development of benign tumors in various organs. In some cases, patients with TSC can also develop malignant tumors, such as renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (PNET). The study presented a case report of a 31-year-old female with TSC who had RCC and PNET, despite not having a history of neurocognitive disorders typically associated with TSC. The findings highlight the importance of recognizing the diverse manifestations of TSC and the need for genetic evaluation and medical care for patients. [Extracted from the article]

A recent study conducted by researchers at Vanderbilt University focused on tuberous sclerosis complex (TSC), a genetic disease that causes benign tumors in the brain and other organs. The study aimed to understand how mutations in the TSC1 or TSC2 gene affect the blood-brain barrier (BBB) and cellular components. Using human induced pluripotent stem cells and microfluidic cell culture technologies, the researchers generated TSC disease-specific cell models of the BBB. They found that the BBB generated from TSC2 heterozygous mutant cells showed increased permeability, which could be rescued by wild type astrocytes or treatment with rapamycin, an mTOR kinase inhibitor. This research contributes to our understanding of TSC pathogenesis and potential future therapeutics. [Extracted from the article]

A recent study conducted by the University of Indonesia has examined the challenges faced by siblings with tuberous sclerosis, a rare genetic disorder that primarily affects the central nervous system and various body organs. The study focused on two siblings, a 13-year-old girl and a 6-year-old boy, who both presented with different manifestations of the disorder. The researchers emphasized the importance of early diagnosis and intervention to prevent complications and highlighted the need for ongoing follow-up and counseling for families affected by tuberous sclerosis. The study also emphasized the advantages of dermatological screening for early detection. [Extracted from the article]

A recent study conducted by researchers at Vrije Universiteit Brussel (VUB) aimed to understand the prevalence of liver steatosis in patients with tuberous sclerosis complex (TSC). TSC is a genetic disease that causes the development of benign tumors in multiple organs due to the activation of the mTORC1 pathway. The study compared liver steatosis in TSC patients with a control group and found no significant difference in the prevalence of liver steatosis between the two groups. The study provides detailed information about the liver phenotype of TSC patients and contributes to the limited clinical data available on liver involvement in this population. [Extracted from the article]