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A recent report from the University Hospital discusses the reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion, and drug screening. The research highlights the potential of brain organoids in understanding brain development and disease modeling, as well as their promise for drug screening. The study describes a method that generates reproducible High Quantity brain organoids (Hi-Q brain organoids) across multiple hiPSC lines, showcasing their potential for personalized neurogenetic disease modeling and drug discovery. [Extracted from the article]

Researchers at the Department of Critical Care Medicine conducted a study on tuberous sclerosis-associated pulmonary lymphangioleiomyomatosis, a rare lung disease that primarily affects women. The study focused on a patient with Tuberous Sclerosis-Associated Lymphangioleiomyomatosis who showed improved respiratory status and pulmonary functional recovery through pulmonary rehabilitation techniques. The research suggests that pulmonary rehabilitation may positively impact the clinical course of TSC-LAM patients by enhancing respiratory capacity and reducing hospitalization time. The study was published in Respiratory Medicine Case Reports and can be accessed for free online. [Extracted from the article]

A study conducted in Palma de Mallorca, Spain, by the Health Research Institute focused on Tuberous Sclerosis, a genetic disorder. The research identified a unique case of a young female patient with atypical noncontiguous gene deletions in TSC2 and PKD1, leading to TSC2/PKD1 contiguous gene deletion syndrome. This case sheds light on a novel pathogenesis for the syndrome, diverging from the common contiguous deletions typically observed. The study was supported by the Unit of Molecular Diagnostics and Clinical Genetics at Hospital Universitari Son Espases and has been peer-reviewed. [Extracted from the article]

The research report from Mayo Clinic focuses on metastatic renal cell carcinoma with fibromyomatous stroma associated with tuberous sclerosis or MTOR, TSC1/TSC2 mutations. The study highlights the importance of accurate diagnosis for prompt germline testing and patient management strategies. The report includes findings from six patients, emphasizing the need for further data to understand the natural history of this disease. The research aims to raise awareness about rare instances of metastatic behavior in this specific type of renal cell carcinoma. [Extracted from the article]

Researchers at Fudan University in Shanghai, China, have reported new findings on microcephaly-capillary malformation syndrome, a life-threatening disease caused by mutations in the STAMBP gene. They created a mouse model that mimics the disease's symptoms, such as microcephaly and growth retardation, to test gene replacement therapy. The study showed that gene supplementation of Stambp in the brain improved neurological defects and extended the lifespan of the mice, suggesting a potential treatment for this syndrome. The research has been peer-reviewed and provides valuable insights into the pathogenesis of STAMBP deficiency. [Extracted from the article]

A recent study conducted by Johns Hopkins University in Baltimore, Maryland, focused on the diagnosis and clinical features of Ring Chromosome 17 Syndrome and 17p13.3 deletion syndrome, both associated with microcephaly and seizures. The research highlighted the challenges in identifying structural variants using current diagnostic methods and suggested the use of Optical Genome Mapping (OGM) as a first-tier test for patients with dysmorphic features, intellectual disability, and seizure disorder. This peer-reviewed study underscores the importance of further investigation into deletions and duplications identified by genetic arrays, especially in cases with atypical phenotypic features. [Extracted from the article]

A recent study conducted by the Department of Dermatology in Maharashtra, India, explored the use of topical sirolimus, an mTOR inhibitor, in managing facial angiofibromas (FAs) associated with Tuberous Sclerosis Complex (TSC). The study involved four cases, showing a consistent reduction in FA severity with no significant adverse effects noted. The findings suggest that topical sirolimus could be a promising and well-tolerated alternative treatment for FAs in TSC, warranting further research to determine optimal dosing strategies and long-term outcomes. The study was published in the Journal of Clinical and Diagnostic Research. [Extracted from the article]

A recent study conducted at the Neuroscience Institute Cavalieri Ottolenghi in Turin, Italy, focused on modeling primary microcephaly using human brain organoids to understand the role of Cit kinase activity in brain development. The research highlighted the importance of CIT catalytic and scaffolding functions in neural progenitor cell cytokinesis for human corticogenesis. The study emphasized the utility of human forebrain organoid models in elucidating human microcephaly and species-specific differences in corticogenesis. Funding for the research was provided by various organizations, including the NIH and Italian Ministry of University and Research. [Extracted from the article]

A recent study conducted by the University of Pittsburgh focused on the differential electrographic seizure patterns in malformations of cortical development, early life brain injury, and later life brain injury. The research, funded by the University of Pittsburgh School of Medicine Dean's Summer Research Award, analyzed data from 70 adult patients with epilepsy secondary to brain injury or MCD. The findings suggest that the timing of epileptogenic insult plays a significant role in the electrophysiological characteristics of structural epilepsies, with distinct patterns observed based on the timing of the insult. The study has been peer-reviewed and provides valuable insights into the impact of timing on seizure characteristics in epilepsy patients. [Extracted from the article]

A recent study conducted at Cincinnati Children's Hospital Medical Center focused on the efficacy of Cenobamate (CBM) for treating seizures in patients with tuberous sclerosis complex (TSC). The study analyzed data from 54 patients aged 2 to 39 years and found that treatment retention rates varied over time, with responder rates ranging from 38.1% to 59.1%. While most patients experienced reduced seizures, side effects such as sedation, behavioral disturbance, and gastrointestinal issues were common. The research suggests areas for improvement in concurrent medication adjustment practices to enhance treatment outcomes for TSC patients. [Extracted from the article]

The article discusses a study on cortical tubers in individuals with tuberous sclerosis complex (TSC), a genetic disorder. The study found that despite severe cortical disorganization, cortical tubers preserved all neuronal subtypes, with principal neurons maintaining spatial position based on transcriptional signatures. Additionally, the research revealed massive metabolic reorganization in TSC neuronal networks, suggesting potential therapeutic targets for epileptogenesis in TSC. The preprint has not yet undergone peer review. [Extracted from the article]

A recent study conducted at the University of Sao Paulo (USP) focused on tuberous sclerosis, an autosomal dominant neurodevelopmental disorder caused by genetic alterations in the TSC1 and TSC2 genes. The research aimed to identify pathogenic DNA alterations in individuals with tuberous sclerosis and assess their functional impact on TORC1 activity. The study found pathogenic alterations in 91% of cases, with functional analysis confirming the clinical diagnosis of tuberous sclerosis in a significant proportion of individuals. This research provides valuable insights into the molecular and functional aspects of TSC1 and TSC2 variants in individuals with tuberous sclerosis. [Extracted from the article]

Researchers from the University of Texas Austin have conducted a study on Tuberous Sclerosis Complex (TSC), a rare neurocutaneous disorder caused by genetic mutations. The disorder can affect various organs and systems in the body, leading to a range of neurological manifestations such as seizures, developmental delays, and cognitive impairments. The research highlights the clinical features of TSC, diagnostic methods, available treatments, and the need for education and support resources for individuals with this complex condition. The study has been peer-reviewed and provides valuable insights into managing TSC. [Extracted from the article]

A recent study from Tribhuvan University Institute of Medicine focused on a case of Subependymal giant cell astrocytoma (SEGA) in a 16-year-old male without tuberous sclerosis complex (TSC). The research highlights the rarity of SEGA without TSC and emphasizes the importance of considering this possibility in clinical practice. The study contributes to the understanding of isolated SEGA and its implications for patient care. For more information, the full article can be accessed for free at https://doi.org/10.1097/ms9.0000000000002662. [Extracted from the article]

Researchers at the University of Sao Paulo conducted a study on microcephaly, a condition with a heterogeneous genetic etiology linked to neurodevelopmental disorders. They investigated the burden of rare copy number variants (CNVs) in 185 Brazilian microcephalic patients and reviewed genes and CNV syndromes associated with microcephaly. The study identified rare clinically relevant CNVs in 21% of patients and highlighted novel candidate loci linked to microcephaly, providing valuable insights for future research in neurodevelopment. The research was supported by Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) and Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPQ). [Extracted from the article]

A recent study from St. Louis University School of Medicine focused on the use of Everolimus in pediatric patients with Tuberous Sclerosis complex (TSC). The research highlighted the potential of Everolimus in reducing cystic kidney disease burden in addition to its known benefits in treating SEGA and seizures. The study emphasized the importance of early intervention with Everolimus to preserve renal function and prevent long-term complications in pediatric TSC patients. For more information, the full article can be accessed through BMC Nephrology. [Extracted from the article]

Researchers at the Federal University Sao Paulo conducted a study on encephalocele, a neural tube closure defect, and its impact on neuropsychomotor development. The study focused on the relationship between good neuropsychomotor development and the reversal of microcephaly in patients undergoing fetal surgery for occipital encephalocele. The findings suggest that the reversal of microcephaly in fetal surgery patients positively influences neuropsychomotor development, serving as a protective factor. This research, published in Child's Nervous System, highlights the importance of early intervention and careful developmental assessment in improving outcomes for patients with encephalocele. [Extracted from the article]

A study conducted by researchers at Kunming University of Science and Technology in China explores the interaction between DYRK1A and the tuberous sclerosis complex, shedding light on how DYRK1A promotes mTORC1 activity. The research suggests that DYRK1A inhibits TSC complex activity through phosphorylation on TSC2, ultimately leading to increased mTORC1 activity. This study provides valuable insights into the molecular mechanisms underlying tuberous sclerosis and may have implications for understanding related neurodegenerative disorders. [Extracted from the article]

A recent study published in the Canadian Medical Association Journal highlights the need for Inuit-specific growth curves to accurately diagnose and treat neurological conditions in Inuit children in Nunavut, Canada. The study found that relying on World Health Organization growth curves has led to overdiagnosis of macrocephaly and underdiagnosis of microcephaly in this population. The researchers recommend developing population-specific growth curves in partnership with local communities to address this issue and avoid unnecessary harm to Inuit people. This research has implications for other Inuit populations in Canada and circumpolar regions, emphasizing the importance of culturally sensitive healthcare practices. [Extracted from the article]

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 study conducted by the University of Paris has found that certain variants of the RELN gene can cause dominant neuronal migration disorders (NMDs). These disorders can lead to malformations in the cerebral cortex, such as pachygyria and polymicrogyria. The study showed that different variants of the RELN gene can have different effects on neuronal aggregation and migration, with some variants behaving as gain-of-function and others as loss-of-function. The research provides valuable insights into the pathogenesis of NMDs and their underlying genetic mechanisms. [Extracted from the article]

A recent preprint abstract discusses the role of the Dmrta2 gene in cortical development and its interaction with the Pax6 gene. The study found that Dmrta2 acts as a transcriptional repressor of Pax6, controlling cortical patterning and maintaining cortical identity in dorsal telencephalic progenitors. The researchers also discovered that a point mutation in Dmrta2 affects its DNA binding properties and leads to certain abnormalities, such as agenesis of the corpus callosum, pachygyria, and the absence of the cingulate gyrus. The study highlights the importance of Dmrta2 in cortical development and provides insights into its mechanism of action. However, it is important to note that this preprint has not yet undergone peer review. [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]

Researchers at the Liverpool Women's NHS Foundation Trust have made advancements in the understanding of mandibulofacial dysostosis, a rare genetic disorder. The study focused on a female patient who was initially diagnosed with achondroplasia, a form of dwarfism, but exhibited additional symptoms that were not fully explained by this diagnosis. Further investigation revealed that the patient had a dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly. This case highlights the complexity of genetic diagnoses and the potential for coexistence of multiple genetic syndromes in a single patient. [Extracted from the article]

A recent study conducted at Kartal Dr. Lutfi Kirdar City Hospital in Istanbul, Turkey, has identified a new variant of the IER3IP1 gene associated with a rare disorder called microcephaly, epilepsy, and diabetes syndrome 1 (MEDS1). This autosomal recessive disorder is characterized by microcephaly, severe infantile epileptic encephalopathy, and early-onset permanent diabetes. The study describes the case of a patient from Turkey who exhibited a different presentation of the disorder, including the absence of a typical brain abnormality, a later onset of diabetes, and a new genetic variant. The researchers emphasize the importance of screening for IER3IP1 mutations in individuals with the triad of microcephaly, seizures, and neonatal diabetes. [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 researchers at Nagoya City University in Japan discusses the role of the PNPLA8 enzyme in various physiological processes and its association with pediatric neurodegenerative disorders. The researchers identified 14 individuals from 12 unrelated families with ultra-rare variants in PNPLA8, leading to a wide range of clinical features. The study found that complete loss of PNPLA8 was associated with congenital microcephaly, and further analysis using cerebral organoids revealed that loss of PNPLA8 led to developmental defects by reducing the number of basal radial glial cells and upper-layer neurons. The research suggests that PNPLA8 is crucial for phospholipid synthesis and the production of basal radial glial cells in human brain development. [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]

A recent study conducted at the Sanjay Gandhi Post Graduate Institute of Medical Sciences in Lucknow, India, focused on primary microcephaly, a condition characterized by small head size and developmental delays. The researchers aimed to identify the genetic causes of primary microcephaly, which remain unknown in many cases. Through whole genome sequencing, they discovered a large homozygous deletion in the WDR62 gene in a pair of siblings with microcephaly. These findings suggest that structural variations in causative genes may be difficult to detect using traditional sequencing methods. The study was supported by the Indian Council of Medical Research and has been peer-reviewed. [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]