rare Archives - Page 2 of 2 - Family Medicine News

Scientists uncover how rare gene mutation affects brain development and memory

19.10.2018 Health Problems

Researchers from the University of California, Irvine School of Medicine, have found that a rare gene mutation alters brain development in mice, impairing memory and disrupting the communication between nerve cells. They also show memory problems could be improved by transplanting a specific type of nerve cell into the brain. The findings were published today in Neuron. “Mutations in hundreds […]

Cancer patients with rare deadly brain infection treated successfully with off-the-shelf adoptive T-cell therapy

11.10.2018 Health Problems

An emerging treatment known as adoptive T-cell therapy has proven effective in a Phase II clinical trial for treating progressive multifocal leukoencephalopathy (PML), a rare and often fatal brain infection sometimes observed in patients with cancer and other diseases in which the immune system is compromised. The study, led by Katy Rezvani, M.D., Ph.D., professor, Department of Stem Cell Transplantation […]

How astrophysics could transform the treatment of cystic fibrosis and other rare diseases

05.10.2018 Health Problems

It’s a cruel disease which dramatically shortens life expectancy. One in 25 Europeans carry the cystic fibrosis gene and, in the UK, about 10,400 people currently have the condition. But people are living longer and longer thanks to improvements in screening at birth, early treatment and medication. One of the most important things is for patients to be put on […]

A Trojan Horse delivery for treating a rare, potentially deadly, blood-clotting disorder

22.09.2018 Health Problems

In proof-of-concept experiments, University of Alabama at Birmingham researchers have highlighted a potential therapy for a rare but potentially deadly blood-clotting disorder, TTP. The researchers deliver this therapeutic enzyme via the cellular equivalent of a Trojan Horse, using tiny blood cell platelets as their protective delivery vehicle, with a key enzyme hidden inside. TTP, or thrombotic thrombocytopenic purpura, appears as […]

New stem cell model can be used to test treatments for a rare nervous system disorder

04.08.2018 Health Problems

A City of Hope researcher has developed a stem cell model to assess possible treatments for a rare nervous system disorder that is in the same disease group as Alzheimer’s disease, Parkinson’s disease and amyotrophic lateral sclerosis (ALS). The finding takes Yanhong Shi, Ph.D., senior author of the study, and her colleagues one step closer to finding a way to […]

New guidelines to diagnose, manage rare endocrine disorders

21.07.2018 Health Problems

International guidelines have been published for the first time to help doctors around the globe diagnose and manage patients with a very rare set of endocrine diseases known as pseudohypoparathyroidism and its related disorders, including Albright hereditary osteodystrophy (AHO). It’s the realization of a long-term goal for physician-scientist Dr. Emily Germain-Lee of the UConn School of Medicine and Connecticut Children’s […]

Extended chemo extends life for children with rare cancer

05.06.2018 Health Problems

(HealthDay)—Children suffering from rhabdomyosarcoma, a rare cancer of the muscle tissue, may have better chances for a cure if they have extended chemotherapy, a new study finds. In a phase 3 clinical trial, adding six months of low-dose maintenance chemotherapy after initial treatment extended the five-year survival rate from 74 percent to 87 percent, researchers found. Children with rhabdomyosarcoma who’ve […]

Study finds rare gain for tough-to-treat pancreatic cancer

04.06.2018 Health Problems

Patients with pancreatic cancer that hadn’t spread lived substantially longer on a four-drug combo than on a single standard cancer drug, a rare advance for a tough-to-treat disease, researchers reported Monday. The results indicate the powerful chemotherapy treatment known as folfirinox will likely become standard of care for the minority of patients whose pancreatic cancer is diagnosed early enough to […]

Rare plant compounds could hold key to treating resistant hypertension

21.05.2018 Health Problems

Researchers have discovered new natural compounds in a fig plant species native to Malaysia that could lead to improved treatment for resistant hypertension. Dr. Kuan Hon Lim and his team from the University of Nottingham Malaysia have isolated a new class of natural compounds from a local fig plant species that induce vasodilation in aorta tissue, meaning the compounds have […]

Telemedicine provides accurate diagnosis of rare cause of blindness in preemies

06.04.2018 Health Problems

Accurately detecting a rare, but devastating cause of blindness in premature babies can be done as effectively with telemedicine as with traditional, in-person eye exams, a study published in JAMA Ophthalmology suggests. This is believed to be the first study to directly compare the two approaches. The finding could enable more blindness-preventing treatment for infants born in rural and other […]

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