Results 41 to 50 of about 24,840 (206)
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
Autism Research, EarlyView.ABSTRACT Although motor‐skill differences in autistic individuals are well established, there is diverging evidence regarding what happens to motor skills in autistic children as they become adolescents. Using both cross‐sectional and longitudinal data, we examined fine and gross motor skills and grip strength of 187 autistic participants and 136 non ...
Allison R. Block +4 more
wiley +1 more source
Receptive–Expressive Language Phenotypes in Infants and Toddlers With Autism Features
Autism Research, EarlyView.ABSTRACT Children diagnosed with autism often present with an atypical discrepancy between their receptive and expressive language levels, or an atypical receptive–expressive language phenotype. Children with an atypical receptive–expressive phenotype present with a relative receptive language advantage (expressive level < receptive level) or a ...
Torrey Cohenour +2 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
Cannabinoids and drug–drug pharmacokinetic interactions: Deciphering the risks
British Journal of Clinical Pharmacology, EarlyView.The relationship between cannabinoids and mental health has become a major focus of scientific inquiry and public discourse. Cannabinoids are diverse chemical compounds from the Cannabis species that have been explored for their therapeutic applications in treating chronic pain, psychiatric and neurological conditions, such as depression, schizophrenia,
Paraskevi Papakyriakopoulou +2 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
Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC); earlier seizure onset is associated with worse neurocognitive outcomes. The incidence of neonatal seizures in TSC is unknown, although in a recent multicenter trial 23% of infants with TSC were excluded prior to randomization because of pre‐existing ...
Kristina Jülich, Kristen Arredondo
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective In epilepsy, daily treatment provides only symptomatic seizure control, leaving a significant unmet need for a treatment that affects the underlying predisposition to seizures. Here, in a first‐of‐its‐kind study, we test the hypothesis that intermittent treatment of seizure clusters with diazepam in the kainic acid post‐status ...
Qian Wu +8 more
wiley +1 more source
Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate
Stem Cell Research & TherapyBackground Tuberous sclerosis complex is a genetic disorder caused by mutations in the TSC1 or TSC2 genes, affecting multiple systems. These genes produce proteins that regulate mTORC1 activity, essential for cell function and metabolism.
Shuang Wang +7 more
doaj +1 more source
Freedon study: Real‐life outcomes of cenobamate in different lines of treatment
Epilepsia, EarlyView.Abstract Objectives Cenobamate is an antiseizure medication (ASM) with proven effectiveness in individuals with highly refractory epilepsy. This study investigated the effectiveness and tolerability of cenobamate in different treatment lines and a less refractory setting. Methods This was a multicenter, retrospective, observational study.
Vicente Villanueva +50 more
wiley +1 more source