Results 31 to 40 of about 34,220 (292)

The diagnosis to be kept in mind in resistant epilepsy; tuberous sclerosis

Northwestern Medical Journal, 2022
Drug-Resistant Epilepsy is the continuation of seizures despite administering two tolerable antiepileptic drugs at the appropriate dose and time, which are selected according to the type of seizure.
Fatih Kurt, Recep Eröz, Mustafa Doğan
doaj   +1 more source

Therapeutics for Tuberous Sclerosis

, 2023
Tuberous Sclerosis Complex (TSC) is a disease characterized by abnormal hamartomas and benign neoplasms in multiple organs. The diagnosis is made by the presence of 2 major features, or 1 major feature accompanied by 2 minor features.
Daniel Lovasz; Amanda Henderson, MD
core  

Concomitant diagnosis of bipolar disorder and tuberous sclerosis - a case report

European Psychiatry, 2022
Introduction Tuberous sclerosis is a multisystem genetic disorder. It is associated with significant psychiatric comorbidity mainly autistic disorders, hyperkinetic disorders, depression and anxiety.
M. Santos, T. Ferreira, P. Neves, J. Peres   +3 more
doaj   +1 more source

Late-Onset Diagnosis of Tuberous Sclerosis Complex Revealed by Renal Angiomyolipoma: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by multisystem hamartomas caused by pathogenic variants in TSC1 or TSC2. It is typically diagnosed in childhood, most often because of neurological or dermatological manifestations.
Fekih A, Heni W, Messaoudi C, Selmi Y, Touati D, Elloumi Z, Labidi J.   +6 more
europepmc   +2 more sources

Prenatal diagnosis of fetal cardiac rhabdomyoma associated with tuberous sclerosis: A case report

Case Reports in Women's Health, 2018
Cardiac tumors are rarely diagnosed in utero. Rhabdomyomas are the most common fetal cardiac tumors. They are usually diagnosed during the first year of life after obstruction of a valve orifice or a cardiac chamber; but they can be detected by ...
Emre Ekmekci, Berfin Okmen Ozkan, Muhammet Serhat Yildiz, Betul Kocakaya   +3 more
doaj   +1 more source

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

Tuberous Sclerosis Complex With Multiple Organ Tumors: Case Report and Literature Review

Frontiers in Oncology, 2022
Pancreatic neuroendocrine neoplasms (PNEN) are tumors that originate from neuroendocrine cells. Only about 1% patients are related to mutation of tuberous sclerosis complex gene. Here, we reported a rare case with involvement of multiple organs and space-
Xinhe Zhang, Xinping Zhong, Xuyong Lin, Xuedan Li, Haoyu Tian, Bing Chang, Ying Wang, Jing Tong, Ningning Wang, Dan Li, Xiuli Jin, Die Huang, Yanmeng Wang, Huipeng Cui, Lin Guan, Yiling Li   +15 more
doaj   +1 more source

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 more
wiley   +1 more source