Perivascular Epithelioid Cell Tumor (PEComa) of the Uterine Cervix in a Patient with Tuberous Sclerosis Complex: A Literature Review [PDF]
Türk Patoloji Dergisi, 2018 Perivascular epithelioid cell tumors (PEComa) are a rare type of mesenchymal tumor arising from perivascular epithelial cells. These tumor cells are a co-expression of both melanocytic and myogenic antigens, such as HMB 45 and smooth muscle actin, and at
Handan ÇELİK +3 more
doaj +1 more source
Genetically engineered human cortical spheroid models of tuberous sclerosis. [PDF]
, 2018 Tuberous sclerosis complex (TSC) is a multisystem developmental disorder caused by mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of mechanistic target of rapamycin complex 1 signaling. Hallmark pathologies of TSC are
Bateup, Helen +2 more
core +1 more source
International Journal of Eating Disorders, EarlyView.ABSTRACT Objective Anorexia nervosa (AN) is a severe psychiatric disorder marked by an intense fear of gaining weight and persistent body dissatisfaction, both during periods of underweight and after weight restoration. The endocannabinoid system may offer therapeutic benefits, particularly in reducing anxiety.
Neha Sahota +8 more
wiley +1 more source
Recent advances in the management of lymphangioleiomyomatosis [version 1; referees: 4 approved]
F1000Research, 2018 Lymphangioleiomyomatosis is a rare disorder that predominantly affects women and is characterized by progressive cystic changes in the lung, leading to gradually worsening shortness of breath and lung function impairment.
Kai-Feng Xu, Xinlun Tian, Jay H Ryu
doaj +1 more source
A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
core +3 more sources
A guide to neuromodulation in drug‐resistant epilepsy
Epileptic Disorders, EarlyView.Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh +10 more
wiley +1 more source
Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex
GMS Ophthalmology Cases, 2016 Background: To present a case of conjunctival lymphangioma in a girl with tuberous sclerosis complex.Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like ...
Freiberg, Florentina Joyce +4 more
doaj +1 more source
Neuroinflammatory targets and treatments for epilepsy validated in experimental models [PDF]
, 2017 A large body of evidence that has accumulated over the past decade strongly supports the role of inflammation in the pathophysiology of human epilepsy.
Aronica, Eleonora +17 more
core +5 more sources
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation [PDF]
, 1999 Tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the TSC1 ...
Bakker, L. (Lida) +10 more
core
Delayed brain and spine migration of a retained SEEG electrode fragment: An unexpected complication
Epileptic Disorders, EarlyView.Abstract Background Stereoelectroencephalography (SEEG) is a well‐established technique for localizing epileptogenic zones in patients with drug‐resistant epilepsy, including children. While considered safe, rare but serious complications can occur.
Manel Krouma +7 more
wiley +1 more source