Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex.
Pediatric Radiology 46(5):689 (2016)
Sclerotic bone lesions are often seen on chest CT in adults with tuberous sclerosis complex.
To characterize bone lesions at abdominal MRI in children with tuberous sclerosis complex.
This retrospective review included 70 children with tuberous sclerosis complex who had undergone abdominal MRI f...
Detection of Onchocerca volvulus in Skin Snips by Microscopy and Real-Time Polymerase Chain Reaction: Implications for Monitoring and Evaluation Activities.
The Journal of tropical medicine and hygiene 94(4):906 (2016)
Microscopic evaluation of skin biopsies is the monitoring and evaluation (M and E) method currently used by multiple onchocerciasis elimination programs in Africa. However, as repeated mass drug administration suppresses microfilarial loads, the sensitivity and programmatic utility of skin snip ...
Angiographic and volumetric effects of mammalian target of rapamycin inhibitors on angiomyolipomas in tuberous sclerosis.
World Journal of Radiology 8(3):308 (2016)
To investigate the angiographic and volumetric effects of mammalian target of rapamycin (mTOR) inhibitors on angiomyolipomas (AMLs) in a case series of patients with tuberous sclerosis complex.
All patients who underwent catheter angiography prior to and following mTOR inhibitor therapy (n = 3) ...
Tuberous sclerosis complex.
Nature Reviews Disease Primers 2:16035 (2016)
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The disorder can affect both adults and children. First described in depth by Bourneville in 1880, it is now estim...
Thyroid nodules on chest CT of patients with tuberous sclerosis complex.
American Journal of Medical Genetics Part A 167A(12):2992 (2015)
A few cases of thyroid disease have been reported in tuberous sclerosis complex (TSC); however, studies on prevalence and characterization of lesions have not been done. Patients with TSC are routinely screened using chest CT for assessment of lung disease. Incidental thyroid findings on chest C...
Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.
Epilepsy Research 118:22 (2015)
In the absence of specific metabolic disorders, predictors of response to ketogenic dietary therapies (KDT) are unknown. We aimed to determine whether variants in established candidate genes KCNJ11 and BAD influence response to KDT. We sequenced KCNJ11 and BAD in individuals without previously-k...
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
PLoS Genetics 11(11):e1005637 (2015)
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor gene syndrome due to germline mutations in either TSC1 or TSC2. 10-15% of TSC individuals have no mutation identified (NMI) after thorough conventional molecular diagnostic assessment. 53 TSC subjects who were NMI were st...
Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC).
American Journal of Medical Genetics Part A 167A(9):2209 (2015)
Primary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy characterized by a congenital malformation of the lymphatic vessels of the small intestine causing insufficient drainage and leakage of lymph fluid. Tuberous sclerosis complex (TSC) is an autosomal dominant genetic di...
Potential sexual transmission of Trypanosoma cruzi in mice.
Acta Tropica 149:15 (2015)
Infection with the protozoan parasite Trypanosoma cruzi, the etiologic agent of human Chagas disease, results in life-long infection. Infective trypomastigotes circulate in the bloodstream and have the capacity to infect any cell type, including reproductive tissue. This study sought to assess t...
Thirty-Seven Human Cases of Sparganosis from Ethiopia and South Sudan Caused by Spirometra Spp.
The Journal of tropical medicine and hygiene 93(2):350 (2015)
Thirty-seven unusual specimens, three from Ethiopia and 34 from South Sudan, were submitted since 2012 for further identification by the Ethiopian Dracunculiasis Eradication Program (EDEP) and the South Sudan Guinea Worm Eradication Program (SSGWEP), respectively. Although the majority of specim...
Drug-drug interaction between clobazam and cannabidiol in children with refractory epilepsy.
Epilepsia 56(8):1246 (2015)
Under an expanded access investigational new drug (IND) trial, cannabidiol (CBD) is being studied as a possible adjuvant treatment of refractory epilepsy in children. Of the 25 subjects in the trial, 13 were being treated with clobazam (CLB). Because CLB and CBD are both metabolized in the cytoc...
It's All about Those Bases: The Need for Incorporating Parasite Genetic Heterogeneity into the Development of Schistosome Vaccines.
PLoS Neglected Tropical Diseases 9(6):e0003805 (2015)
Lacosamide use in the treatment of refractory epilepsy in tuberous sclerosis complex.
Epilepsy Research 112:72 (2015)
Lacosamide (LCS) was approved by the United States Food and Drug Administration (FDA) in 2008 as adjunctive therapy to other anti-epileptic drugs (AEDs) to treat focal-onset seizures, with or without secondary generalization. Its role in the treatment of epilepsy in individuals with tuberous scl...
Angelman syndrome in adulthood.
American Journal of Medical Genetics Part A 167A(2):331 (2015)
Angelman syndrome (AS) is a neurogenetic disorder. The goal of this study was to investigate the primary health issues affecting adults with AS and to further characterize the natural history and genotype-phenotype correlations. Standardized phone interviews with caregivers for 110 adolescents a...
Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex.
Developmental Medicine and Child Neurology 56(12):1207 (2014)
Patients with tuberous sclerosis complex (TSC) with brain involvement usually have both tubers and subependymal nodules (SENs) and the occurrence of one lesion without the other seems to be rare. The aim of this study was to assess the specific clinical manifestations and genotype of patients wi...
Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis.
Epilepsia 55 Suppl 3:29 (2014)
Children with tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis all have complex but differing needs in the process of transition/transfer to adult care. All three may be associated with long-term normal intelligence or a varying degree of intellectual disability. In ...
Renal cell carcinoma in tuberous sclerosis complex.
The American Journal of Surgical Pathology 38(7):895 (2014)
Renal cell carcinoma (RCC) occurs in 2% to 4% of patients with tuberous sclerosis complex (TSC). Previous reports have noted a variety of histologic appearances in these cancers, but the full spectrum of morphologic and molecular features has not been fully elucidated. We encountered 46 renal ep...
Intracranial arteriopathy in tuberous sclerosis complex.
Journal of child neurology 29(7):912 (2014)
Arterial aneurysms, mostly aortic and intracranial, have been occasionally reported in patients with tuberous sclerosis complex. Brain magnetic resonance imaging reports of 404 patients with definite and 16 patients with either probable or possible tuberous sclerosis complex were revised for int...
The case for assessing cannabidiol in epilepsy.
Epilepsia 55(6):787 (2014)
Intractable epilepsies have an extraordinary impact on cognitive and behavioral function and quality of life, and the treatment of seizures represents a challenge and a unique opportunity. Over the past few years, considerable attention has focused on cannabidiol (CBD), the major nonpsychotropic...
Lymphedema in tuberous sclerosis complex.
American Journal of Medical Genetics Part A 164A(6):1438 (2014)
Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pa...