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Tuberous in Medical News

New research demonstrates potential diagnosis, treatment benefits

... the drug sirolimus in patients with LAM or tuberous sclerosis complex (TSC) with angiomyolipomas, ... Support was provided by The LAM Foundation, the tuberous Sclerosis Alliance (with funding from the ... (pneumothorax) and/or lung cysts. Women who have tuberous sclerosis complex (TSC) may also be tested, as ...

Teaming Up to Tackle a Deadly Cancer

... General Hospital who had published two case reports of patients with tuberous sclerosis who developed chordomas along the spine. Sommer asked the ... she thought the genetic mutations on two tumor-suppressor genes linked to tuberous sclerosis could be involved with the development of chordomas. Ramesh ...

Pathway links inflammation, angiogenesis and breast cancer

... by attaching phosphate groups to other proteins. IKK phosphorylates tuberous sclerosis 1 (TSC1) blocking it from working with its ally, tuberous sclerosis 2, to repress the mammalian target of rapamycin (mTOR) pathway. ...

Are imaging features of hepatic angiomyolipoma related to its clinical setting?

... and prominent central vessels in six sporadic cases, and multiple, small hepatic angiomyolipomas, with or without a fat component in four cases with tuberous sclerosis complex (TSC). Lymphangioleiomyomatosis (LAM) and multiple hepatic angiomyolipomas were found in one patient with TSC. The results ...

Explorer's Bounty Unveils New Line of Tribal Stone Crackers

... these artisan-baked crackers have no added sweeteners, are gluten free, allergen and fat free as well as vegan friendly. A starchy tuberous root, Yuca (also known as cassava) has earned the distinction of being the third largest source of carbohydrates for human food in the world. The ...

Springer adds Journal of Neurodevelopmental Disorders to biomedical journal portfolio

... Journal of Neurodevelopmental Disorders will support and promote interdisciplinary research into such disorders as autism, Fragile X Syndrome and tuberous sclerosis, helping to bridge the gap between basic research and treatment in these critical areas." Dr. Joseph Piven, Editor-in-Chief, said, ...

The first autism disease genes

... affected four times more often than females. In approximately 10% of cases, autism is associated with a recognized cause, such as Fragile X Syndrome, tuberous Sclerosis or diverse chromosomal abnormalities (mean observed rates between 5-10%), but in a vast majority of cases, no known causes are associated ...

Transplant Drug Shrinks Tumors in Women With Rare Lung Disease

... as many as 250,000 women worldwide might have the disease. The new treatment was also effective in reducing tumors in patients suffering from tuberous sclerosis complex (TSC), a rare genetic multi-system disease. The two diseases share a genetic mutation that affects the activation of the enzyme ...

Rare Womens Lung Disease May Yield Insights Into Common Diseases

... to two diseases not well-known to the public: tuberous sclerosis complex (TSC) and ... her work, Henske discovered that mutations in the tuberous sclerosis gene, which triggers TSC, a genetic ... the cellular pathways that are activated in tuberous sclerosis and LAM are also activated in many ...
Tuberous in Medical Technology

Afinitor(R) Phase II Data Show Positive Results for Patients With Multiple Types of Lymphoma, Leading to Phase III Trial

... kidney cancer. Afinitor is being studied in multiple cancer types, including NET, breast, gastric and hepatocellular carcinoma (HCC), as well as tuberous sclerosis complex (TSC) and NHL. The active ingredient in Afinitor is everolimus, which is available in different dosage strengths under the ...

Video: Afinitor(R) Approved in US as First Treatment for Patients With Advanced Kidney Cancer After Failure of Either Sunitinib or Sorafenib

... Afinitor is also being studied in multiple cancer types, including neuroendocrine, breast, gastric and hepatocellular carcinoma (HCC), as well as tuberous sclerosis complex (TSC) and non-Hodgkin's lymphoma(11). The active ingredient in Afinitor is everolimus, which is available in different dosage ...

More Than 200 Abstracts at ASH and SABCS Reveal Potential Compelling Patient Benefits From Novartis Oncology Current and Pipeline Therapies

... in combination with existing therapies for renal cell carcinoma, neuroendocrine tumors, lymphoma, breast, gastric, lung and other cancers, as well as tuberous sclerosis. About LBH589 (panobinostat) Panobinostat (LBH589), is an investigational pan-deacetylase (DAC) inhibitor which interferes ...

RAD001 Combined with Sandostatin LAR(R) Depot and as Monotherapy Controls Growth of Rare Pancreatic Neuroendocrine Tumors

... as a single agent or in combination with existing therapies in renal cell carcinoma, lymphoma, breast, gastric, lung and other cancers, as well as tuberous sclerosis. About Sandostatin LAR Depot Sandostatin LAR(R) Depot (octreotide acetate for injectable suspension) is a long-acting, injectable depot ...

Early Data Presented at ASCO Show Potential of RAD001 to Enhance Efficacy of, and Overcome Resistance to, Breast Cancer Treatments

... being evaluated in renal cell carcinoma; neuroendocrine tumors; lymphoma, lung, stomach and liver cancers, in addition to other cancers; and in tuberous sclerosis complex as a single agent or in combination with existing cancer therapies. As an investigational compound, the safety and efficacy ...

RAD001 More Than Doubles Time Without Tumor Growth After Failure of Standard Treatment in Patients With Advanced Kidney Cancer

... continuous inhibition of mTOR. In addition to RCC, RAD001 is presently being evaluated in neuroendocrine tumors, lymphoma, other cancers, and tuberous sclerosis as a single agent or in combination with existing cancer therapies. As an investigational compound, the safety and efficacy profile ...

Everolimus (RAD001) Significantly Extends Progression-Free Survival in Advanced Kidney Cancer Patients After Failure of Other Targeted Therapy

... prognosis of patients with RCC. In addition to RCC, everolimus is presently being evaluated in neuroendocrine tumors, lymphoma, other cancers, and tuberous sclerosis as a single agent or in combination with existing cancer therapies. Safety findings in the study were manageable and consistent with ...
Tuberous in Medical Definition

Fat transfer

... female breasts is done, not only for cosmetic reasons, but to reconstruct deformities like a mastectomy , a breast implant collapse and or a tuberous breast, a condition in which the adult breasts fail to develop in puberty and result in extremely small, narrow and sagging breasts. Plastic ...
Tuberous in Medical Dictionary

Sclerosis

... and spinal cord (see Multi media file 1). tuberous sclerosis complex (also commonly referred to as tuberous sclerosis or TSC) is a rare and commonly ... are highly associated with a diagnosis of tuberous sclerosis . Multiple sclerosis is ...

Tuberous sclerosis

... tuberous sclerosis is inherited in an autosomal dominant ... TSC1 gene makes a protein c alled tuberin. tuberous sclerosis Definition: tuberous sclerosis is a group of two genetic disorders ...

Myoma

... frequently presents as multi ple tumor s and can be associated with tuberous sclerosis . Partial or complete regression of this type of tumor can ... : prenatal diagnosis , clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr 143 (5): 620-4, 2003. [PUBMED Abstract] ... ...

Von Hippel-lindau Disease

... disease multi ple endocrine neoplasia (MEN) syndrome s tuberous sclerosis Sturge-Weber syndrome ataxia - telangiectasia ... [1] ... disease , cerebellar hemangiobla stoma , Sturge -Weber's syndrome , and tuberous sclerosis . Von Hippel-Lindau disease . People with this inherited ...

Autistic behavior

... Autistic behavior includes: ... In a few cases, autistic behavior is caused by a disease such as: rubella in the pregnant mother tuberous sclerosis ... WHAT CAN I DO IF MY CHILD SHOWS AUTISTIC BEHAVIOR ? If your child clearly exhibits a number of the behavior s associated with ...

Cardiac

... primary cardiac tumor in infants and children is rhabdo myoma , which frequently presents as multi ple tumor s and can be associated with tuberous sclerosis . Cardiac ischemia Ischemia means insufficient blood supply to an organ or tissue . Cardiac ischemia occurs when a ...

Rett syndrome

... as there are several genetic syndrome s which may cause autism , including Fragile-X, untreated phenylketonuria ( PKU ), neurofibromatosis , tuberous sclerosis , Rett syndrome , ... Autism is also called the Kanner syndrome . See also Asperger syndrome , elective mutism, Pervasive ...

Rubella

... immunization status for hepatitis B , tetanus , diphtheria , measles , mumps and rubella . They include for example maternal rubella , tuberous sclerosis , lack of oxygen at birth and complications of childhood illnesses such as whooping cough and measles . who take ...

Sturge-Weber syndrome

... syndrome is present. Next section ... neurofibromatosis Von Hippel-Lindau disease multi ple endocrine neoplasia (MEN) syndrome s tuberous sclerosis Sturge-Weber syndrome ataxia - telangiectasia ... Examples of overgrowth syndrome s include neurofibromatosis , Sotos syndrome ...

Von Hippel-Lindau

... glands , or other parts of the body. neurofibromatosis Von Hippel-Lindau disease multi ple endocrine neoplasia (MEN) syndrome s tuberous sclerosis Sturge-Weber syndrome ataxia - telangiectasia ... Capillary hemangiobla stoma (WHO grade I) occurs sporadically and is ...

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Tuberous in Biological News

Rare genetic disorder gives clues to autism, epilepsy, mental retardation

... A rare genetic disorder called tuberous sclerosis complex (TSC) is yielding insight into ... who also directs the clinical Multi-Disciplinary tuberous Sclerosis program at Children's. Since autism ... from Autism Speaks, the Manton Foundation and the tuberous Sclerosis Alliance to pursue this idea further. ...

Drug reverses mental retardation caused by genetic disorder

... dysfunction inflicted by a genetic disease called tuberous sclerosis complex (TSC). Because half of TSC ... development is to blame for mental impairment in tuberous sclerosis," added first author Dan Ehninger, ... "Our research offers hope to patients affected by tuberous sclerosis and to their families. The new ...

Genetic breakthrough offers promise in tackling kidney tumors

... on Easter Island could treat the genetic disorder tuberous sclerosis. tuberous sclerosis is an inherited disease affecting ... If the genes fail, mTOR is too active leading to tuberous sclerosis. The UK study tested the effects of ...

Rutgers research tackles childhood epilepsy

... It had already shown promise in a different mouse model for treating tuberous sclerosis complex (TSC), a subtype of cortical dysplasia. "We ... future," said D'Arcangelo. "This drug is being tested on human patients of tuberous sclerosis in a multicenter study involving six TSC clinics throughout the ...

Origin of root offshoots revealed

... firmly anchored in the soil and can be used to counteract erosion. On the other hand, slowing down secondary root formation can be advantageous in tuberous plants, like potatoes or sugar beets. This enables these food crops to invest all their energy in the production of nutrients. Fewer root offshoots ...

Protein key to organ growth

... homologue enriched in brain), a protein controlling growth and differentiation, and may give clues to treatment of a particular benign disease called tuberous sclerosis that is associated with the control exerted through the same pathway, said Dr. Kwang-Wook Choi, associate professor of molecular and ...

Super-sized cassava plants may help fight hunger in Africa

... Cassava is the primary food source for more than 250 million Africans ?about 40 percent of the continent's population. And the plant's starchy tuberous root is a substantial portion of the diet of nearly 600 million people worldwide. Sayre said he hopes to offer these plants to countries where ...

Tiny RNA molecules fine-tune the brain's synapses

... to a chromosomal deletion is associated with Williams syndrome, and that the BDNF pathway that activates Limk1 includes proteins that are disabled in tuberous sclerosis and Fragile X syndrome. All three genetic disorders can cause cognitive impairment and autistic-like behaviors. ...
Tuberous in Biological Technology

cMaster RTplusPCR System for increased sensitivity and product length in RT-PCR

... Target for RT-PCR amplification: human tuberous Sclerosis Factor (hTSF) mRNA, a 5.3 kb ... (mouse and human), 1.3 kb fragment Human tuberous Sclerosis Factor (hTSF) mRNA, 5.3 kb fragment ... Long range One Step RT-PCR of the human tuberous Sclerosis Factor mRNA. M: DNA Ruler ...
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